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Links from Protein

Items: 1 to 20 of 1149

1.

rs1489790451 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GATGGCAGCCACGACAGC>- [Show Flanks]
    Chromosome:
    2:86442126 (GRCh38)
    2:86669249 (GRCh37)
    Canonical SPDI:
    NC_000002.12:86442121:CAGCGATGGCAGCCACGACAGC:CAGC
    Gene:
    KDM3A (Varview)
    Functional Consequence:
    inframe_deletion,genic_upstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    CAGC=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:

    2.

    rs1489398034 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      2:86442057 (GRCh38)
      2:86669180 (GRCh37)
      Canonical SPDI:
      NC_000002.12:86442056:A:G,NC_000002.12:86442056:A:T
      Gene:
      KDM3A (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000071/1 (TOMMO)
      HGVS:
      NC_000002.12:g.86442057A>G, NC_000002.12:g.86442057A>T, NC_000002.11:g.86669180A>G, NC_000002.11:g.86669180A>T, NG_047167.1:g.6411A>G, NG_047167.1:g.6411A>T, NM_018433.6:c.10A>G, NM_018433.6:c.10A>T, NM_018433.5:c.10A>G, NM_018433.5:c.10A>T, NM_001146688.2:c.10A>G, NM_001146688.2:c.10A>T, NM_001146688.1:c.10A>G, NM_001146688.1:c.10A>T, XM_047445102.1:c.10A>G, XM_047445102.1:c.10A>T, XM_047445103.1:c.10A>G, XM_047445103.1:c.10A>T, XM_047445104.1:c.10A>G, XM_047445104.1:c.10A>T, XM_047445101.1:c.10A>G, XM_047445101.1:c.10A>T, NP_060903.2:p.Thr4Ala, NP_060903.2:p.Thr4Ser, NP_001140160.1:p.Thr4Ala, NP_001140160.1:p.Thr4Ser, XP_047301058.1:p.Thr4Ala, XP_047301058.1:p.Thr4Ser, XP_047301059.1:p.Thr4Ala, XP_047301059.1:p.Thr4Ser, XP_047301060.1:p.Thr4Ala, XP_047301060.1:p.Thr4Ser, XP_047301057.1:p.Thr4Ala, XP_047301057.1:p.Thr4Ser

      3.

      rs1485103584 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:86482574 (GRCh38)
        2:86709697 (GRCh37)
        Canonical SPDI:
        NC_000002.12:86482573:C:T
        Gene:
        KDM3A (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0.000111/1 (ALFA)
        T=0.000012/3 (GnomAD_exomes)
        HGVS:

        4.

        rs1485048424 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          2:86456507 (GRCh38)
          2:86683630 (GRCh37)
          Canonical SPDI:
          NC_000002.12:86456506:T:C
          Gene:
          KDM3A (Varview)
          Functional Consequence:
          upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
          HGVS:

          5.

          rs1483575295 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            2:86482567 (GRCh38)
            2:86709690 (GRCh37)
            Canonical SPDI:
            NC_000002.12:86482566:T:C
            Gene:
            KDM3A (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.000111/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1482637462 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:86491249 (GRCh38)
              2:86718372 (GRCh37)
              Canonical SPDI:
              NC_000002.12:86491248:C:T
              Gene:
              KDM3A (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1480003489 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                2:86478253 (GRCh38)
                2:86705376 (GRCh37)
                Canonical SPDI:
                NC_000002.12:86478252:A:C
                Gene:
                KDM3A (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1479356252 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  2:86478219 (GRCh38)
                  2:86705342 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:86478218:A:G
                  Gene:
                  KDM3A (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1476765724 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    2:86480256 (GRCh38)
                    2:86707379 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:86480255:A:T
                    Gene:
                    KDM3A (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1476563496 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:86478025 (GRCh38)
                      2:86705148 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:86478024:A:G
                      Gene:
                      KDM3A (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1476148837 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        2:86480167 (GRCh38)
                        2:86707290 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:86480166:A:G
                        Gene:
                        KDM3A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1474178883 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:86482586 (GRCh38)
                          2:86709709 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:86482585:C:T
                          Gene:
                          KDM3A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1471109914 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:86456837 (GRCh38)
                            2:86683960 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:86456836:G:A
                            Gene:
                            KDM3A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1470768693 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              2:86474788 (GRCh38)
                              2:86701911 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:86474787:C:G,NC_000002.12:86474787:C:T
                              Gene:
                              KDM3A (Varview)
                              Functional Consequence:
                              missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.86474788C>G, NC_000002.12:g.86474788C>T, NC_000002.11:g.86701911C>G, NC_000002.11:g.86701911C>T, NG_047167.1:g.39142C>G, NG_047167.1:g.39142C>T, NM_018433.6:c.1737C>G, NM_018433.6:c.1737C>T, NM_018433.5:c.1737C>G, NM_018433.5:c.1737C>T, NM_001146688.2:c.1737C>G, NM_001146688.2:c.1737C>T, NM_001146688.1:c.1737C>G, NM_001146688.1:c.1737C>T, XM_047445102.1:c.1737C>G, XM_047445102.1:c.1737C>T, XM_047445103.1:c.1737C>G, XM_047445103.1:c.1737C>T, XM_047445104.1:c.1737C>G, XM_047445104.1:c.1737C>T, XM_047445101.1:c.1737C>G, XM_047445101.1:c.1737C>T, XM_047445105.1:c.882C>G, XM_047445105.1:c.882C>T, NP_060903.2:p.Asn579Lys, NP_001140160.1:p.Asn579Lys, XP_047301058.1:p.Asn579Lys, XP_047301059.1:p.Asn579Lys, XP_047301060.1:p.Asn579Lys, XP_047301057.1:p.Asn579Lys, XP_047301061.1:p.Asn294Lys

                              15.

                              rs1470431039 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                2:86478205 (GRCh38)
                                2:86705328 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:86478204:G:A,NC_000002.12:86478204:G:T
                                Gene:
                                KDM3A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                NC_000002.12:g.86478205G>A, NC_000002.12:g.86478205G>T, NC_000002.11:g.86705328G>A, NC_000002.11:g.86705328G>T, NG_047167.1:g.42559G>A, NG_047167.1:g.42559G>T, NM_018433.6:c.2128G>A, NM_018433.6:c.2128G>T, NM_018433.5:c.2128G>A, NM_018433.5:c.2128G>T, NM_001146688.2:c.2128G>A, NM_001146688.2:c.2128G>T, NM_001146688.1:c.2128G>A, NM_001146688.1:c.2128G>T, XM_006712051.5:c.148G>A, XM_006712051.5:c.148G>T, XM_006712051.4:c.148G>A, XM_006712051.4:c.148G>T, XM_006712051.3:c.148G>A, XM_006712051.3:c.148G>T, XM_006712051.2:c.148G>A, XM_006712051.2:c.148G>T, XM_006712051.1:c.148G>A, XM_006712051.1:c.148G>T, XM_047445102.1:c.2128G>A, XM_047445102.1:c.2128G>T, XM_047445103.1:c.2128G>A, XM_047445103.1:c.2128G>T, XM_047445104.1:c.2128G>A, XM_047445104.1:c.2128G>T, XM_047445101.1:c.2128G>A, XM_047445101.1:c.2128G>T, XM_047445105.1:c.1273G>A, XM_047445105.1:c.1273G>T, NP_060903.2:p.Val710Met, NP_060903.2:p.Val710Leu, NP_001140160.1:p.Val710Met, NP_001140160.1:p.Val710Leu, XP_006712114.1:p.Val50Met, XP_006712114.1:p.Val50Leu, XP_047301058.1:p.Val710Met, XP_047301058.1:p.Val710Leu, XP_047301059.1:p.Val710Met, XP_047301059.1:p.Val710Leu, XP_047301060.1:p.Val710Met, XP_047301060.1:p.Val710Leu, XP_047301057.1:p.Val710Met, XP_047301057.1:p.Val710Leu, XP_047301061.1:p.Val425Met, XP_047301061.1:p.Val425Leu

                                16.

                                rs1469270387 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  2:86451172 (GRCh38)
                                  2:86678295 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:86451171:C:G
                                  Gene:
                                  KDM3A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1469117621 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GGT>- [Show Flanks]
                                    Chromosome:
                                    2:86456877 (GRCh38)
                                    2:86684000 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:86456874:GTGGT:GT
                                    Gene:
                                    KDM3A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,upstream_transcript_variant,splice_donor_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    GT=0.000111/1 (ALFA)
                                    -=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1468584427 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      2:86480311 (GRCh38)
                                      2:86707434 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:86480310:C:A
                                      Gene:
                                      KDM3A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1468398035 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        2:86466509 (GRCh38)
                                        2:86693632 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:86466508:T:G
                                        Gene:
                                        KDM3A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000008/2 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1466194033 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:86464137 (GRCh38)
                                          2:86691260 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:86464136:C:T
                                          Gene:
                                          KDM3A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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