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Items: 1 to 20 of 348

2.

rs1486208155 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    2:74425677 (GRCh38)
    2:74652804 (GRCh37)
    Canonical SPDI:
    NC_000002.12:74425676:G:C
    Gene:
    RTKN (Varview), WDR54 (Varview)
    Functional Consequence:
    coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    3.
    4.

    rs1469954011 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      2:74425098 (GRCh38)
      2:74652225 (GRCh37)
      Canonical SPDI:
      NC_000002.12:74425097:T:G
      Gene:
      WDR54 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000008/2 (TOPMED)
      ...more
      HGVS:
      5.

      rs1465961489 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        2:74422161 (GRCh38)
        2:74649288 (GRCh37)
        Canonical SPDI:
        NC_000002.12:74422160:G:T
        Gene:
        WDR54 (Varview), C2orf81 (Varview)
        Functional Consequence:
        upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        T=0.000035/1 (TOMMO)
        HGVS:
        6.

        rs1465190573 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:74422166 (GRCh38)
          2:74649293 (GRCh37)
          Canonical SPDI:
          NC_000002.12:74422165:G:A
          Gene:
          WDR54 (Varview), C2orf81 (Varview)
          Functional Consequence:
          upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          7.

          rs1461985925 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:74423319 (GRCh38)
            2:74650446 (GRCh37)
            Canonical SPDI:
            NC_000002.12:74423318:A:G
            Gene:
            WDR54 (Varview), C2orf81 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            8.

            rs1456280626 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:74423333 (GRCh38)
              2:74650460 (GRCh37)
              Canonical SPDI:
              NC_000002.12:74423332:T:C
              Gene:
              WDR54 (Varview), C2orf81 (Varview)
              Functional Consequence:
              2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              10.

              rs1455537651 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                2:74425645 (GRCh38)
                2:74652772 (GRCh37)
                Canonical SPDI:
                NC_000002.12:74425644:T:A
                Gene:
                RTKN (Varview), WDR54 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                12.

                rs1450547603 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  2:74422365 (GRCh38)
                  2:74649493 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:74422365::G
                  Gene:
                  WDR54 (Varview), C2orf81 (Varview)
                  Functional Consequence:
                  frameshift_variant,intron_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  13.

                  rs1441734875 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:74424878 (GRCh38)
                    2:74652005 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:74424877:T:C
                    Gene:
                    WDR54 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000028/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    ...more
                    HGVS:
                    14.

                    rs1441509953 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:74422916 (GRCh38)
                      2:74650043 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:74422915:C:T
                      Gene:
                      WDR54 (Varview), C2orf81 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000015/4 (TOPMED)
                      T=0.000021/3 (GnomAD)
                      ...more
                      HGVS:
                      15.
                      16.

                      rs1437640529 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        2:74422294 (GRCh38)
                        2:74649421 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:74422293:T:C
                        Gene:
                        WDR54 (Varview), C2orf81 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        17.

                        rs1437292047 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:74423907 (GRCh38)
                          2:74651034 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:74423906:C:T
                          Gene:
                          WDR54 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (GnomAD_exomes)
                          T=0.000008/2 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          ...more
                          HGVS:
                          19.

                          rs1432927545 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:74425695 (GRCh38)
                            2:74652822 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:74425694:T:C
                            Gene:
                            RTKN (Varview), WDR54 (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            20.

                            rs1428817861 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GAGT>- [Show Flanks]
                              Chromosome:
                              2:74422354 (GRCh38)
                              2:74649481 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:74422349:GAGTGAGT:GAGT
                              Gene:
                              WDR54 (Varview), C2orf81 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,frameshift_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GAGTGAGT=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000007/1 (GnomAD)
                              ...more
                              HGVS:

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