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Items: 1 to 20 of 218

1.

rs1489248570 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    4:51913293 (GRCh38)
    4:52779459 (GRCh37)
    Canonical SPDI:
    NC_000004.12:51913292:T:A
    Gene:
    DCUN1D4 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000004.12:g.51913293T>A, NC_000004.11:g.52779459T>A, XM_005265731.4:c.751T>A, XM_005265731.3:c.751T>A, XM_005265731.2:c.751T>A, XM_005265731.1:c.751T>A, NM_015115.4:c.619T>A, NM_015115.3:c.619T>A, NM_015115.2:c.619T>A, XM_017007912.3:c.625T>A, XM_017007912.2:c.625T>A, XM_017007912.1:c.625T>A, NM_001040402.3:c.724T>A, NM_001040402.2:c.724T>A, NM_001040402.1:c.724T>A, XM_017007913.3:c.304T>A, XM_017007913.2:c.304T>A, XM_017007913.1:c.304T>A, NM_001287757.2:c.544T>A, NM_001287757.1:c.544T>A, XM_024453944.2:c.544T>A, XM_024453944.1:c.544T>A, XM_011534380.2:c.544T>A, XM_011534380.1:c.544T>A, XM_024453943.2:c.544T>A, XM_024453943.1:c.544T>A, XM_024453945.2:c.439T>A, XM_024453945.1:c.439T>A, XM_047449873.1:c.730T>A, XM_047449872.1:c.730T>A, XM_047449874.1:c.730T>A, NM_001287755.1:c.856T>A, XM_047449877.1:c.544T>A, XM_047449882.1:c.544T>A, XM_047449871.1:c.544T>A, XM_047449881.1:c.439T>A, XP_005265788.1:p.Ser251Thr, NP_055930.2:p.Ser207Thr, XP_016863401.1:p.Ser209Thr, NP_001035492.1:p.Ser242Thr, XP_016863402.1:p.Ser102Thr, NP_001274686.1:p.Ser182Thr, XP_024309712.1:p.Ser182Thr, XP_011532682.1:p.Ser182Thr, XP_024309711.1:p.Ser182Thr, XP_024309713.1:p.Ser147Thr, XP_047305829.1:p.Ser244Thr, XP_047305828.1:p.Ser244Thr, XP_047305830.1:p.Ser244Thr, NP_001274684.1:p.Ser286Thr, XP_047305833.1:p.Ser182Thr, XP_047305838.1:p.Ser182Thr, XP_047305827.1:p.Ser182Thr, XP_047305837.1:p.Ser147Thr
    2.

    rs1486359607 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      4:51913577 (GRCh38)
      4:52779743 (GRCh37)
      Canonical SPDI:
      NC_000004.12:51913576:T:C
      Gene:
      DCUN1D4 (Varview)
      Functional Consequence:
      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000008/2 (TOPMED)
      HGVS:
      NC_000004.12:g.51913577T>C, NC_000004.11:g.52779743T>C, XM_005265731.4:c.899T>C, XM_005265731.3:c.899T>C, XM_005265731.2:c.899T>C, XM_005265731.1:c.899T>C, NM_015115.4:c.767T>C, NM_015115.3:c.767T>C, NM_015115.2:c.767T>C, XM_017007912.3:c.773T>C, XM_017007912.2:c.773T>C, XM_017007912.1:c.773T>C, NM_001040402.3:c.872T>C, NM_001040402.2:c.872T>C, NM_001040402.1:c.872T>C, XM_017007913.3:c.452T>C, XM_017007913.2:c.452T>C, XM_017007913.1:c.452T>C, NM_001287757.2:c.692T>C, NM_001287757.1:c.692T>C, XM_024453944.2:c.692T>C, XM_024453944.1:c.692T>C, XM_011534380.2:c.692T>C, XM_011534380.1:c.692T>C, XM_024453943.2:c.692T>C, XM_024453943.1:c.692T>C, XM_024453945.2:c.587T>C, XM_024453945.1:c.587T>C, XM_047449873.1:c.878T>C, XM_047449872.1:c.878T>C, XM_047449874.1:c.878T>C, NM_001287755.1:c.1004T>C, XM_047449877.1:c.692T>C, XM_047449882.1:c.692T>C, XM_047449871.1:c.692T>C, XM_047449881.1:c.587T>C, XP_005265788.1:p.Met300Thr, NP_055930.2:p.Met256Thr, XP_016863401.1:p.Met258Thr, NP_001035492.1:p.Met291Thr, XP_016863402.1:p.Met151Thr, NP_001274686.1:p.Met231Thr, XP_024309712.1:p.Met231Thr, XP_011532682.1:p.Met231Thr, XP_024309711.1:p.Met231Thr, XP_024309713.1:p.Met196Thr, XP_047305829.1:p.Met293Thr, XP_047305828.1:p.Met293Thr, XP_047305830.1:p.Met293Thr, NP_001274684.1:p.Met335Thr, XP_047305833.1:p.Met231Thr, XP_047305838.1:p.Met231Thr, XP_047305827.1:p.Met231Thr, XP_047305837.1:p.Met196Thr
      3.

      rs1467219612 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        4:51899271 (GRCh38)
        4:52765437 (GRCh37)
        Canonical SPDI:
        NC_000004.12:51899270:T:C
        Gene:
        DCUN1D4 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000004.12:g.51899271T>C, NC_000004.11:g.52765437T>C, XM_005265731.4:c.640T>C, XM_005265731.3:c.640T>C, XM_005265731.2:c.640T>C, XM_005265731.1:c.640T>C, NM_015115.4:c.508T>C, NM_015115.3:c.508T>C, NM_015115.2:c.508T>C, XM_017007912.3:c.514T>C, XM_017007912.2:c.514T>C, XM_017007912.1:c.514T>C, NM_001040402.3:c.508T>C, NM_001040402.2:c.508T>C, NM_001040402.1:c.508T>C, XM_017007913.3:c.88T>C, XM_017007913.2:c.88T>C, XM_017007913.1:c.88T>C, NM_001287757.2:c.328T>C, NM_001287757.1:c.328T>C, XM_024453944.2:c.328T>C, XM_024453944.1:c.328T>C, XM_011534380.2:c.328T>C, XM_011534380.1:c.328T>C, XM_024453943.2:c.328T>C, XM_024453943.1:c.328T>C, XM_024453945.2:c.328T>C, XM_024453945.1:c.328T>C, XM_047449879.1:c.514T>C, XM_047449873.1:c.514T>C, XM_047449872.1:c.514T>C, XM_047449874.1:c.514T>C, NM_001287755.1:c.640T>C, XM_047449877.1:c.328T>C, XM_047449882.1:c.328T>C, XM_047449871.1:c.328T>C, XM_047449881.1:c.328T>C, XR_007096386.1:n.647T>C, XM_047449875.1:c.640T>C, XM_047449876.1:c.640T>C, XM_047449878.1:c.508T>C, XM_047449880.1:c.508T>C, XP_005265788.1:p.Cys214Arg, NP_055930.2:p.Cys170Arg, XP_016863401.1:p.Cys172Arg, NP_001035492.1:p.Cys170Arg, XP_016863402.1:p.Cys30Arg, NP_001274686.1:p.Cys110Arg, XP_024309712.1:p.Cys110Arg, XP_011532682.1:p.Cys110Arg, XP_024309711.1:p.Cys110Arg, XP_024309713.1:p.Cys110Arg, XP_047305835.1:p.Cys172Arg, XP_047305829.1:p.Cys172Arg, XP_047305828.1:p.Cys172Arg, XP_047305830.1:p.Cys172Arg, NP_001274684.1:p.Cys214Arg, XP_047305833.1:p.Cys110Arg, XP_047305838.1:p.Cys110Arg, XP_047305827.1:p.Cys110Arg, XP_047305837.1:p.Cys110Arg, XP_047305831.1:p.Cys214Arg, XP_047305832.1:p.Cys214Arg, XP_047305834.1:p.Cys170Arg, XP_047305836.1:p.Cys170Arg
        4.

        rs1461085290 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          4:51843266 (GRCh38)
          4:52709432 (GRCh37)
          Canonical SPDI:
          NC_000004.12:51843265:C:T
          Gene:
          DCUN1D4 (Varview)
          Functional Consequence:
          upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
          Validated:
          by frequency
          MAF:
          T=0.000007/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1451986820 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            4:51913306 (GRCh38)
            4:52779472 (GRCh37)
            Canonical SPDI:
            NC_000004.12:51913305:T:C
            Gene:
            DCUN1D4 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000004.12:g.51913306T>C, NC_000004.11:g.52779472T>C, XM_005265731.4:c.764T>C, XM_005265731.3:c.764T>C, XM_005265731.2:c.764T>C, XM_005265731.1:c.764T>C, NM_015115.4:c.632T>C, NM_015115.3:c.632T>C, NM_015115.2:c.632T>C, XM_017007912.3:c.638T>C, XM_017007912.2:c.638T>C, XM_017007912.1:c.638T>C, NM_001040402.3:c.737T>C, NM_001040402.2:c.737T>C, NM_001040402.1:c.737T>C, XM_017007913.3:c.317T>C, XM_017007913.2:c.317T>C, XM_017007913.1:c.317T>C, NM_001287757.2:c.557T>C, NM_001287757.1:c.557T>C, XM_024453944.2:c.557T>C, XM_024453944.1:c.557T>C, XM_011534380.2:c.557T>C, XM_011534380.1:c.557T>C, XM_024453943.2:c.557T>C, XM_024453943.1:c.557T>C, XM_024453945.2:c.452T>C, XM_024453945.1:c.452T>C, XM_047449873.1:c.743T>C, XM_047449872.1:c.743T>C, XM_047449874.1:c.743T>C, NM_001287755.1:c.869T>C, XM_047449877.1:c.557T>C, XM_047449882.1:c.557T>C, XM_047449871.1:c.557T>C, XM_047449881.1:c.452T>C, XP_005265788.1:p.Val255Ala, NP_055930.2:p.Val211Ala, XP_016863401.1:p.Val213Ala, NP_001035492.1:p.Val246Ala, XP_016863402.1:p.Val106Ala, NP_001274686.1:p.Val186Ala, XP_024309712.1:p.Val186Ala, XP_011532682.1:p.Val186Ala, XP_024309711.1:p.Val186Ala, XP_024309713.1:p.Val151Ala, XP_047305829.1:p.Val248Ala, XP_047305828.1:p.Val248Ala, XP_047305830.1:p.Val248Ala, NP_001274684.1:p.Val290Ala, XP_047305833.1:p.Val186Ala, XP_047305838.1:p.Val186Ala, XP_047305827.1:p.Val186Ala, XP_047305837.1:p.Val151Ala
            8.

            rs1447849424 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              4:51863503 (GRCh38)
              4:52729669 (GRCh37)
              Canonical SPDI:
              NC_000004.12:51863502:A:G
              Gene:
              DCUN1D4 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000004.12:g.51863503A>G, NC_000004.11:g.52729669A>G, XM_005265731.4:c.224A>G, XM_005265731.3:c.224A>G, XM_005265731.2:c.224A>G, XM_005265731.1:c.224A>G, NM_015115.4:c.92A>G, NM_015115.3:c.92A>G, NM_015115.2:c.92A>G, XM_017007912.3:c.98A>G, XM_017007912.2:c.98A>G, XM_017007912.1:c.98A>G, NM_001040402.3:c.92A>G, NM_001040402.2:c.92A>G, NM_001040402.1:c.92A>G, NM_001287757.2:c.-89A>G, NM_001287757.1:c.-89A>G, XM_024453944.2:c.-89A>G, XM_024453944.1:c.-89A>G, XM_011534380.2:c.-89A>G, XM_011534380.1:c.-89A>G, XM_024453943.2:c.-89A>G, XM_024453943.1:c.-89A>G, XM_024453945.2:c.-89A>G, XM_024453945.1:c.-89A>G, XM_047449879.1:c.98A>G, XM_047449873.1:c.98A>G, XM_047449872.1:c.98A>G, XM_047449874.1:c.98A>G, NM_001287755.1:c.224A>G, XM_047449877.1:c.-89A>G, XM_047449882.1:c.-89A>G, XM_047449871.1:c.-89A>G, XM_047449881.1:c.-89A>G, XR_007096386.1:n.231A>G, XM_047449875.1:c.224A>G, XM_047449876.1:c.224A>G, XM_047449878.1:c.92A>G, XM_047449880.1:c.92A>G, XP_005265788.1:p.Lys75Arg, NP_055930.2:p.Lys31Arg, XP_016863401.1:p.Lys33Arg, NP_001035492.1:p.Lys31Arg, XP_047305835.1:p.Lys33Arg, XP_047305829.1:p.Lys33Arg, XP_047305828.1:p.Lys33Arg, XP_047305830.1:p.Lys33Arg, NP_001274684.1:p.Lys75Arg, XP_047305831.1:p.Lys75Arg, XP_047305832.1:p.Lys75Arg, XP_047305834.1:p.Lys31Arg, XP_047305836.1:p.Lys31Arg
              10.

              rs1438982059 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                4:51877764 (GRCh38)
                4:52743930 (GRCh37)
                Canonical SPDI:
                NC_000004.12:51877763:A:C,NC_000004.12:51877763:A:G
                Gene:
                DCUN1D4 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000031/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000004/1 (TOPMED)
                C=0.000071/1 (TOMMO)
                HGVS:
                NC_000004.12:g.51877764A>C, NC_000004.12:g.51877764A>G, NC_000004.11:g.52743930A>C, NC_000004.11:g.52743930A>G, XM_005265731.4:c.385A>C, XM_005265731.4:c.385A>G, XM_005265731.3:c.385A>C, XM_005265731.3:c.385A>G, XM_005265731.2:c.385A>C, XM_005265731.2:c.385A>G, XM_005265731.1:c.385A>C, XM_005265731.1:c.385A>G, NM_015115.4:c.253A>C, NM_015115.4:c.253A>G, NM_015115.3:c.253A>C, NM_015115.3:c.253A>G, NM_015115.2:c.253A>C, NM_015115.2:c.253A>G, XM_017007912.3:c.259A>C, XM_017007912.3:c.259A>G, XM_017007912.2:c.259A>C, XM_017007912.2:c.259A>G, XM_017007912.1:c.259A>C, XM_017007912.1:c.259A>G, NM_001040402.3:c.253A>C, NM_001040402.3:c.253A>G, NM_001040402.2:c.253A>C, NM_001040402.2:c.253A>G, NM_001040402.1:c.253A>C, NM_001040402.1:c.253A>G, NM_001287757.2:c.73A>C, NM_001287757.2:c.73A>G, NM_001287757.1:c.73A>C, NM_001287757.1:c.73A>G, XM_024453944.2:c.73A>C, XM_024453944.2:c.73A>G, XM_024453944.1:c.73A>C, XM_024453944.1:c.73A>G, XM_011534380.2:c.73A>C, XM_011534380.2:c.73A>G, XM_011534380.1:c.73A>C, XM_011534380.1:c.73A>G, XM_024453943.2:c.73A>C, XM_024453943.2:c.73A>G, XM_024453943.1:c.73A>C, XM_024453943.1:c.73A>G, XM_024453945.2:c.73A>C, XM_024453945.2:c.73A>G, XM_024453945.1:c.73A>C, XM_024453945.1:c.73A>G, XM_047449879.1:c.259A>C, XM_047449879.1:c.259A>G, XM_047449873.1:c.259A>C, XM_047449873.1:c.259A>G, XM_047449872.1:c.259A>C, XM_047449872.1:c.259A>G, XM_047449874.1:c.259A>C, XM_047449874.1:c.259A>G, NM_001287755.1:c.385A>C, NM_001287755.1:c.385A>G, XM_047449877.1:c.73A>C, XM_047449877.1:c.73A>G, XM_047449882.1:c.73A>C, XM_047449882.1:c.73A>G, XM_047449871.1:c.73A>C, XM_047449871.1:c.73A>G, XM_047449881.1:c.73A>C, XM_047449881.1:c.73A>G, XR_007096386.1:n.392A>C, XR_007096386.1:n.392A>G, XM_047449875.1:c.385A>C, XM_047449875.1:c.385A>G, XM_047449876.1:c.385A>C, XM_047449876.1:c.385A>G, XM_047449878.1:c.253A>C, XM_047449878.1:c.253A>G, XM_047449880.1:c.253A>C, XM_047449880.1:c.253A>G, XP_005265788.1:p.Met129Leu, XP_005265788.1:p.Met129Val, NP_055930.2:p.Met85Leu, NP_055930.2:p.Met85Val, XP_016863401.1:p.Met87Leu, XP_016863401.1:p.Met87Val, NP_001035492.1:p.Met85Leu, NP_001035492.1:p.Met85Val, NP_001274686.1:p.Met25Leu, NP_001274686.1:p.Met25Val, XP_024309712.1:p.Met25Leu, XP_024309712.1:p.Met25Val, XP_011532682.1:p.Met25Leu, XP_011532682.1:p.Met25Val, XP_024309711.1:p.Met25Leu, XP_024309711.1:p.Met25Val, XP_024309713.1:p.Met25Leu, XP_024309713.1:p.Met25Val, XP_047305835.1:p.Met87Leu, XP_047305835.1:p.Met87Val, XP_047305829.1:p.Met87Leu, XP_047305829.1:p.Met87Val, XP_047305828.1:p.Met87Leu, XP_047305828.1:p.Met87Val, XP_047305830.1:p.Met87Leu, XP_047305830.1:p.Met87Val, NP_001274684.1:p.Met129Leu, NP_001274684.1:p.Met129Val, XP_047305833.1:p.Met25Leu, XP_047305833.1:p.Met25Val, XP_047305838.1:p.Met25Leu, XP_047305838.1:p.Met25Val, XP_047305827.1:p.Met25Leu, XP_047305827.1:p.Met25Val, XP_047305837.1:p.Met25Leu, XP_047305837.1:p.Met25Val, XP_047305831.1:p.Met129Leu, XP_047305831.1:p.Met129Val, XP_047305832.1:p.Met129Leu, XP_047305832.1:p.Met129Val, XP_047305834.1:p.Met85Leu, XP_047305834.1:p.Met85Val, XP_047305836.1:p.Met85Leu, XP_047305836.1:p.Met85Val
                11.

                rs1432586715 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  4:51874297 (GRCh38)
                  4:52740463 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:51874296:G:C
                  Gene:
                  DCUN1D4 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.51874297G>C, NC_000004.11:g.52740463G>C, XM_005265731.4:c.295G>C, XM_005265731.3:c.295G>C, XM_005265731.2:c.295G>C, XM_005265731.1:c.295G>C, NM_015115.4:c.163G>C, NM_015115.3:c.163G>C, NM_015115.2:c.163G>C, XM_017007912.3:c.169G>C, XM_017007912.2:c.169G>C, XM_017007912.1:c.169G>C, NM_001040402.3:c.163G>C, NM_001040402.2:c.163G>C, NM_001040402.1:c.163G>C, NM_001287757.2:c.-18G>C, NM_001287757.1:c.-18G>C, XM_024453944.2:c.-18G>C, XM_024453944.1:c.-18G>C, XM_011534380.2:c.-18G>C, XM_011534380.1:c.-18G>C, XM_024453943.2:c.-18G>C, XM_024453943.1:c.-18G>C, XM_024453945.2:c.-18G>C, XM_024453945.1:c.-18G>C, XM_047449879.1:c.169G>C, XM_047449873.1:c.169G>C, XM_047449872.1:c.169G>C, XM_047449874.1:c.169G>C, NM_001287755.1:c.295G>C, XM_047449877.1:c.-18G>C, XM_047449882.1:c.-18G>C, XM_047449871.1:c.-18G>C, XM_047449881.1:c.-18G>C, XR_007096386.1:n.302G>C, XM_047449875.1:c.295G>C, XM_047449876.1:c.295G>C, XM_047449878.1:c.163G>C, XM_047449880.1:c.163G>C, XP_005265788.1:p.Asp99His, NP_055930.2:p.Asp55His, XP_016863401.1:p.Asp57His, NP_001035492.1:p.Asp55His, XP_047305835.1:p.Asp57His, XP_047305829.1:p.Asp57His, XP_047305828.1:p.Asp57His, XP_047305830.1:p.Asp57His, NP_001274684.1:p.Asp99His, XP_047305831.1:p.Asp99His, XP_047305832.1:p.Asp99His, XP_047305834.1:p.Asp55His, XP_047305836.1:p.Asp55His
                  13.

                  rs1416152041 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    4:51874339 (GRCh38)
                    4:52740505 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:51874338:C:A
                    Gene:
                    DCUN1D4 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000004.12:g.51874339C>A, NC_000004.11:g.52740505C>A, XM_005265731.4:c.337C>A, XM_005265731.3:c.337C>A, XM_005265731.2:c.337C>A, XM_005265731.1:c.337C>A, NM_015115.4:c.205C>A, NM_015115.3:c.205C>A, NM_015115.2:c.205C>A, XM_017007912.3:c.211C>A, XM_017007912.2:c.211C>A, XM_017007912.1:c.211C>A, NM_001040402.3:c.205C>A, NM_001040402.2:c.205C>A, NM_001040402.1:c.205C>A, NM_001287757.2:c.25C>A, NM_001287757.1:c.25C>A, XM_024453944.2:c.25C>A, XM_024453944.1:c.25C>A, XM_011534380.2:c.25C>A, XM_011534380.1:c.25C>A, XM_024453943.2:c.25C>A, XM_024453943.1:c.25C>A, XM_024453945.2:c.25C>A, XM_024453945.1:c.25C>A, XM_047449879.1:c.211C>A, XM_047449873.1:c.211C>A, XM_047449872.1:c.211C>A, XM_047449874.1:c.211C>A, NM_001287755.1:c.337C>A, XM_047449877.1:c.25C>A, XM_047449882.1:c.25C>A, XM_047449871.1:c.25C>A, XM_047449881.1:c.25C>A, XR_007096386.1:n.344C>A, XM_047449875.1:c.337C>A, XM_047449876.1:c.337C>A, XM_047449878.1:c.205C>A, XM_047449880.1:c.205C>A, XP_005265788.1:p.Pro113Thr, NP_055930.2:p.Pro69Thr, XP_016863401.1:p.Pro71Thr, NP_001035492.1:p.Pro69Thr, NP_001274686.1:p.Pro9Thr, XP_024309712.1:p.Pro9Thr, XP_011532682.1:p.Pro9Thr, XP_024309711.1:p.Pro9Thr, XP_024309713.1:p.Pro9Thr, XP_047305835.1:p.Pro71Thr, XP_047305829.1:p.Pro71Thr, XP_047305828.1:p.Pro71Thr, XP_047305830.1:p.Pro71Thr, NP_001274684.1:p.Pro113Thr, XP_047305833.1:p.Pro9Thr, XP_047305838.1:p.Pro9Thr, XP_047305827.1:p.Pro9Thr, XP_047305837.1:p.Pro9Thr, XP_047305831.1:p.Pro113Thr, XP_047305832.1:p.Pro113Thr, XP_047305834.1:p.Pro69Thr, XP_047305836.1:p.Pro69Thr
                    14.

                    rs1413062057 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      4:51899290 (GRCh38)
                      4:52765456 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:51899289:T:G
                      Gene:
                      DCUN1D4 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      HGVS:
                      NC_000004.12:g.51899290T>G, NC_000004.11:g.52765456T>G, XM_005265731.4:c.659T>G, XM_005265731.3:c.659T>G, XM_005265731.2:c.659T>G, XM_005265731.1:c.659T>G, NM_015115.4:c.527T>G, NM_015115.3:c.527T>G, NM_015115.2:c.527T>G, XM_017007912.3:c.533T>G, XM_017007912.2:c.533T>G, XM_017007912.1:c.533T>G, NM_001040402.3:c.527T>G, NM_001040402.2:c.527T>G, NM_001040402.1:c.527T>G, XM_017007913.3:c.107T>G, XM_017007913.2:c.107T>G, XM_017007913.1:c.107T>G, NM_001287757.2:c.347T>G, NM_001287757.1:c.347T>G, XM_024453944.2:c.347T>G, XM_024453944.1:c.347T>G, XM_011534380.2:c.347T>G, XM_011534380.1:c.347T>G, XM_024453943.2:c.347T>G, XM_024453943.1:c.347T>G, XM_024453945.2:c.347T>G, XM_024453945.1:c.347T>G, XM_047449879.1:c.533T>G, XM_047449873.1:c.533T>G, XM_047449872.1:c.533T>G, XM_047449874.1:c.533T>G, NM_001287755.1:c.659T>G, XM_047449877.1:c.347T>G, XM_047449882.1:c.347T>G, XM_047449871.1:c.347T>G, XM_047449881.1:c.347T>G, XR_007096386.1:n.666T>G, XM_047449875.1:c.659T>G, XM_047449876.1:c.659T>G, XM_047449878.1:c.527T>G, XM_047449880.1:c.527T>G, XP_005265788.1:p.Leu220Arg, NP_055930.2:p.Leu176Arg, XP_016863401.1:p.Leu178Arg, NP_001035492.1:p.Leu176Arg, XP_016863402.1:p.Leu36Arg, NP_001274686.1:p.Leu116Arg, XP_024309712.1:p.Leu116Arg, XP_011532682.1:p.Leu116Arg, XP_024309711.1:p.Leu116Arg, XP_024309713.1:p.Leu116Arg, XP_047305835.1:p.Leu178Arg, XP_047305829.1:p.Leu178Arg, XP_047305828.1:p.Leu178Arg, XP_047305830.1:p.Leu178Arg, NP_001274684.1:p.Leu220Arg, XP_047305833.1:p.Leu116Arg, XP_047305838.1:p.Leu116Arg, XP_047305827.1:p.Leu116Arg, XP_047305837.1:p.Leu116Arg, XP_047305831.1:p.Leu220Arg, XP_047305832.1:p.Leu220Arg, XP_047305834.1:p.Leu176Arg, XP_047305836.1:p.Leu176Arg
                      16.

                      rs1404483121 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        4:51899320 (GRCh38)
                        4:52765486 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:51899319:T:C
                        Gene:
                        DCUN1D4 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000004.12:g.51899320T>C, NC_000004.11:g.52765486T>C, XM_005265731.4:c.689T>C, XM_005265731.3:c.689T>C, XM_005265731.2:c.689T>C, XM_005265731.1:c.689T>C, NM_015115.4:c.557T>C, NM_015115.3:c.557T>C, NM_015115.2:c.557T>C, XM_017007912.3:c.563T>C, XM_017007912.2:c.563T>C, XM_017007912.1:c.563T>C, NM_001040402.3:c.557T>C, NM_001040402.2:c.557T>C, NM_001040402.1:c.557T>C, XM_017007913.3:c.137T>C, XM_017007913.2:c.137T>C, XM_017007913.1:c.137T>C, NM_001287757.2:c.377T>C, NM_001287757.1:c.377T>C, XM_024453944.2:c.377T>C, XM_024453944.1:c.377T>C, XM_011534380.2:c.377T>C, XM_011534380.1:c.377T>C, XM_024453943.2:c.377T>C, XM_024453943.1:c.377T>C, XM_024453945.2:c.377T>C, XM_024453945.1:c.377T>C, XM_047449879.1:c.563T>C, XM_047449873.1:c.563T>C, XM_047449872.1:c.563T>C, XM_047449874.1:c.563T>C, NM_001287755.1:c.689T>C, XM_047449877.1:c.377T>C, XM_047449882.1:c.377T>C, XM_047449871.1:c.377T>C, XM_047449881.1:c.377T>C, XR_007096386.1:n.696T>C, XM_047449875.1:c.689T>C, XM_047449876.1:c.689T>C, XM_047449878.1:c.557T>C, XM_047449880.1:c.557T>C, XP_005265788.1:p.Phe230Ser, NP_055930.2:p.Phe186Ser, XP_016863401.1:p.Phe188Ser, NP_001035492.1:p.Phe186Ser, XP_016863402.1:p.Phe46Ser, NP_001274686.1:p.Phe126Ser, XP_024309712.1:p.Phe126Ser, XP_011532682.1:p.Phe126Ser, XP_024309711.1:p.Phe126Ser, XP_024309713.1:p.Phe126Ser, XP_047305835.1:p.Phe188Ser, XP_047305829.1:p.Phe188Ser, XP_047305828.1:p.Phe188Ser, XP_047305830.1:p.Phe188Ser, NP_001274684.1:p.Phe230Ser, XP_047305833.1:p.Phe126Ser, XP_047305838.1:p.Phe126Ser, XP_047305827.1:p.Phe126Ser, XP_047305837.1:p.Phe126Ser, XP_047305831.1:p.Phe230Ser, XP_047305832.1:p.Phe230Ser, XP_047305834.1:p.Phe186Ser, XP_047305836.1:p.Phe186Ser
                        17.

                        rs1400164933 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          4:51877791 (GRCh38)
                          4:52743957 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:51877790:A:G
                          Gene:
                          DCUN1D4 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000012/3 (GnomAD_exomes)
                          HGVS:
                          NC_000004.12:g.51877791A>G, NC_000004.11:g.52743957A>G, XM_005265731.4:c.412A>G, XM_005265731.3:c.412A>G, XM_005265731.2:c.412A>G, XM_005265731.1:c.412A>G, NM_015115.4:c.280A>G, NM_015115.3:c.280A>G, NM_015115.2:c.280A>G, XM_017007912.3:c.286A>G, XM_017007912.2:c.286A>G, XM_017007912.1:c.286A>G, NM_001040402.3:c.280A>G, NM_001040402.2:c.280A>G, NM_001040402.1:c.280A>G, NM_001287757.2:c.100A>G, NM_001287757.1:c.100A>G, XM_024453944.2:c.100A>G, XM_024453944.1:c.100A>G, XM_011534380.2:c.100A>G, XM_011534380.1:c.100A>G, XM_024453943.2:c.100A>G, XM_024453943.1:c.100A>G, XM_024453945.2:c.100A>G, XM_024453945.1:c.100A>G, XM_047449879.1:c.286A>G, XM_047449873.1:c.286A>G, XM_047449872.1:c.286A>G, XM_047449874.1:c.286A>G, NM_001287755.1:c.412A>G, XM_047449877.1:c.100A>G, XM_047449882.1:c.100A>G, XM_047449871.1:c.100A>G, XM_047449881.1:c.100A>G, XR_007096386.1:n.419A>G, XM_047449875.1:c.412A>G, XM_047449876.1:c.412A>G, XM_047449878.1:c.280A>G, XM_047449880.1:c.280A>G, XP_005265788.1:p.Ile138Val, NP_055930.2:p.Ile94Val, XP_016863401.1:p.Ile96Val, NP_001035492.1:p.Ile94Val, NP_001274686.1:p.Ile34Val, XP_024309712.1:p.Ile34Val, XP_011532682.1:p.Ile34Val, XP_024309711.1:p.Ile34Val, XP_024309713.1:p.Ile34Val, XP_047305835.1:p.Ile96Val, XP_047305829.1:p.Ile96Val, XP_047305828.1:p.Ile96Val, XP_047305830.1:p.Ile96Val, NP_001274684.1:p.Ile138Val, XP_047305833.1:p.Ile34Val, XP_047305838.1:p.Ile34Val, XP_047305827.1:p.Ile34Val, XP_047305837.1:p.Ile34Val, XP_047305831.1:p.Ile138Val, XP_047305832.1:p.Ile138Val, XP_047305834.1:p.Ile94Val, XP_047305836.1:p.Ile94Val
                          18.

                          rs1388449248 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            4:51913332 (GRCh38)
                            4:52779498 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:51913331:G:A
                            Gene:
                            DCUN1D4 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000004.12:g.51913332G>A, NC_000004.11:g.52779498G>A, XM_005265731.4:c.790G>A, XM_005265731.3:c.790G>A, XM_005265731.2:c.790G>A, XM_005265731.1:c.790G>A, NM_015115.4:c.658G>A, NM_015115.3:c.658G>A, NM_015115.2:c.658G>A, XM_017007912.3:c.664G>A, XM_017007912.2:c.664G>A, XM_017007912.1:c.664G>A, NM_001040402.3:c.763G>A, NM_001040402.2:c.763G>A, NM_001040402.1:c.763G>A, XM_017007913.3:c.343G>A, XM_017007913.2:c.343G>A, XM_017007913.1:c.343G>A, NM_001287757.2:c.583G>A, NM_001287757.1:c.583G>A, XM_024453944.2:c.583G>A, XM_024453944.1:c.583G>A, XM_011534380.2:c.583G>A, XM_011534380.1:c.583G>A, XM_024453943.2:c.583G>A, XM_024453943.1:c.583G>A, XM_024453945.2:c.478G>A, XM_024453945.1:c.478G>A, XM_047449873.1:c.769G>A, XM_047449872.1:c.769G>A, XM_047449874.1:c.769G>A, NM_001287755.1:c.895G>A, XM_047449877.1:c.583G>A, XM_047449882.1:c.583G>A, XM_047449871.1:c.583G>A, XM_047449881.1:c.478G>A, XP_005265788.1:p.Val264Ile, NP_055930.2:p.Val220Ile, XP_016863401.1:p.Val222Ile, NP_001035492.1:p.Val255Ile, XP_016863402.1:p.Val115Ile, NP_001274686.1:p.Val195Ile, XP_024309712.1:p.Val195Ile, XP_011532682.1:p.Val195Ile, XP_024309711.1:p.Val195Ile, XP_024309713.1:p.Val160Ile, XP_047305829.1:p.Val257Ile, XP_047305828.1:p.Val257Ile, XP_047305830.1:p.Val257Ile, NP_001274684.1:p.Val299Ile, XP_047305833.1:p.Val195Ile, XP_047305838.1:p.Val195Ile, XP_047305827.1:p.Val195Ile, XP_047305837.1:p.Val160Ile
                            19.

                            rs1386994422 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              4:51891784 (GRCh38)
                              4:52757950 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:51891783:A:C
                              Gene:
                              DCUN1D4 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000004.12:g.51891784A>C, NC_000004.11:g.52757950A>C, XM_005265731.4:c.571A>C, XM_005265731.3:c.571A>C, XM_005265731.2:c.571A>C, XM_005265731.1:c.571A>C, NM_015115.4:c.439A>C, NM_015115.3:c.439A>C, NM_015115.2:c.439A>C, XM_017007912.3:c.445A>C, XM_017007912.2:c.445A>C, XM_017007912.1:c.445A>C, NM_001040402.3:c.439A>C, NM_001040402.2:c.439A>C, NM_001040402.1:c.439A>C, XM_017007913.3:c.19A>C, XM_017007913.2:c.19A>C, XM_017007913.1:c.19A>C, NM_001287757.2:c.259A>C, NM_001287757.1:c.259A>C, XM_024453944.2:c.259A>C, XM_024453944.1:c.259A>C, XM_011534380.2:c.259A>C, XM_011534380.1:c.259A>C, XM_024453943.2:c.259A>C, XM_024453943.1:c.259A>C, XM_024453945.2:c.259A>C, XM_024453945.1:c.259A>C, XM_047449879.1:c.445A>C, XM_047449873.1:c.445A>C, XM_047449872.1:c.445A>C, XM_047449874.1:c.445A>C, NM_001287755.1:c.571A>C, XM_047449877.1:c.259A>C, XM_047449882.1:c.259A>C, XM_047449871.1:c.259A>C, XM_047449881.1:c.259A>C, XR_007096386.1:n.578A>C, XM_047449875.1:c.571A>C, XM_047449876.1:c.571A>C, XM_047449878.1:c.439A>C, XM_047449880.1:c.439A>C, XP_005265788.1:p.Lys191Gln, NP_055930.2:p.Lys147Gln, XP_016863401.1:p.Lys149Gln, NP_001035492.1:p.Lys147Gln, XP_016863402.1:p.Lys7Gln, NP_001274686.1:p.Lys87Gln, XP_024309712.1:p.Lys87Gln, XP_011532682.1:p.Lys87Gln, XP_024309711.1:p.Lys87Gln, XP_024309713.1:p.Lys87Gln, XP_047305835.1:p.Lys149Gln, XP_047305829.1:p.Lys149Gln, XP_047305828.1:p.Lys149Gln, XP_047305830.1:p.Lys149Gln, NP_001274684.1:p.Lys191Gln, XP_047305833.1:p.Lys87Gln, XP_047305838.1:p.Lys87Gln, XP_047305827.1:p.Lys87Gln, XP_047305837.1:p.Lys87Gln, XP_047305831.1:p.Lys191Gln, XP_047305832.1:p.Lys191Gln, XP_047305834.1:p.Lys147Gln, XP_047305836.1:p.Lys147Gln
                              20.

                              rs1386574857 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                4:51874355 (GRCh38)
                                4:52740521 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:51874354:A:G,NC_000004.12:51874354:A:T
                                Gene:
                                DCUN1D4 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000051/1 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000004.12:g.51874355A>G, NC_000004.12:g.51874355A>T, NC_000004.11:g.52740521A>G, NC_000004.11:g.52740521A>T, XM_005265731.4:c.353A>G, XM_005265731.4:c.353A>T, XM_005265731.3:c.353A>G, XM_005265731.3:c.353A>T, XM_005265731.2:c.353A>G, XM_005265731.2:c.353A>T, XM_005265731.1:c.353A>G, XM_005265731.1:c.353A>T, NM_015115.4:c.221A>G, NM_015115.4:c.221A>T, NM_015115.3:c.221A>G, NM_015115.3:c.221A>T, NM_015115.2:c.221A>G, NM_015115.2:c.221A>T, XM_017007912.3:c.227A>G, XM_017007912.3:c.227A>T, XM_017007912.2:c.227A>G, XM_017007912.2:c.227A>T, XM_017007912.1:c.227A>G, XM_017007912.1:c.227A>T, NM_001040402.3:c.221A>G, NM_001040402.3:c.221A>T, NM_001040402.2:c.221A>G, NM_001040402.2:c.221A>T, NM_001040402.1:c.221A>G, NM_001040402.1:c.221A>T, NM_001287757.2:c.41A>G, NM_001287757.2:c.41A>T, NM_001287757.1:c.41A>G, NM_001287757.1:c.41A>T, XM_024453944.2:c.41A>G, XM_024453944.2:c.41A>T, XM_024453944.1:c.41A>G, XM_024453944.1:c.41A>T, XM_011534380.2:c.41A>G, XM_011534380.2:c.41A>T, XM_011534380.1:c.41A>G, XM_011534380.1:c.41A>T, XM_024453943.2:c.41A>G, XM_024453943.2:c.41A>T, XM_024453943.1:c.41A>G, XM_024453943.1:c.41A>T, XM_024453945.2:c.41A>G, XM_024453945.2:c.41A>T, XM_024453945.1:c.41A>G, XM_024453945.1:c.41A>T, XM_047449879.1:c.227A>G, XM_047449879.1:c.227A>T, XM_047449873.1:c.227A>G, XM_047449873.1:c.227A>T, XM_047449872.1:c.227A>G, XM_047449872.1:c.227A>T, XM_047449874.1:c.227A>G, XM_047449874.1:c.227A>T, NM_001287755.1:c.353A>G, NM_001287755.1:c.353A>T, XM_047449877.1:c.41A>G, XM_047449877.1:c.41A>T, XM_047449882.1:c.41A>G, XM_047449882.1:c.41A>T, XM_047449871.1:c.41A>G, XM_047449871.1:c.41A>T, XM_047449881.1:c.41A>G, XM_047449881.1:c.41A>T, XR_007096386.1:n.360A>G, XR_007096386.1:n.360A>T, XM_047449875.1:c.353A>G, XM_047449875.1:c.353A>T, XM_047449876.1:c.353A>G, XM_047449876.1:c.353A>T, XM_047449878.1:c.221A>G, XM_047449878.1:c.221A>T, XM_047449880.1:c.221A>G, XM_047449880.1:c.221A>T, XP_005265788.1:p.Asp118Gly, XP_005265788.1:p.Asp118Val, NP_055930.2:p.Asp74Gly, NP_055930.2:p.Asp74Val, XP_016863401.1:p.Asp76Gly, XP_016863401.1:p.Asp76Val, NP_001035492.1:p.Asp74Gly, NP_001035492.1:p.Asp74Val, NP_001274686.1:p.Asp14Gly, NP_001274686.1:p.Asp14Val, XP_024309712.1:p.Asp14Gly, XP_024309712.1:p.Asp14Val, XP_011532682.1:p.Asp14Gly, XP_011532682.1:p.Asp14Val, XP_024309711.1:p.Asp14Gly, XP_024309711.1:p.Asp14Val, XP_024309713.1:p.Asp14Gly, XP_024309713.1:p.Asp14Val, XP_047305835.1:p.Asp76Gly, XP_047305835.1:p.Asp76Val, XP_047305829.1:p.Asp76Gly, XP_047305829.1:p.Asp76Val, XP_047305828.1:p.Asp76Gly, XP_047305828.1:p.Asp76Val, XP_047305830.1:p.Asp76Gly, XP_047305830.1:p.Asp76Val, NP_001274684.1:p.Asp118Gly, NP_001274684.1:p.Asp118Val, XP_047305833.1:p.Asp14Gly, XP_047305833.1:p.Asp14Val, XP_047305838.1:p.Asp14Gly, XP_047305838.1:p.Asp14Val, XP_047305827.1:p.Asp14Gly, XP_047305827.1:p.Asp14Val, XP_047305837.1:p.Asp14Gly, XP_047305837.1:p.Asp14Val, XP_047305831.1:p.Asp118Gly, XP_047305831.1:p.Asp118Val, XP_047305832.1:p.Asp118Gly, XP_047305832.1:p.Asp118Val, XP_047305834.1:p.Asp74Gly, XP_047305834.1:p.Asp74Val, XP_047305836.1:p.Asp74Gly, XP_047305836.1:p.Asp74Val

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