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Items: 1 to 20 of 1284

2.
4.

rs1489061989 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    1:6474029 (GRCh38)
    1:6534089 (GRCh37)
    Canonical SPDI:
    NC_000001.11:6474028:T:C,NC_000001.11:6474028:T:G
    Gene:
    PLEKHG5 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.6474029T>C, NC_000001.11:g.6474029T>G, NC_000001.10:g.6534089T>C, NC_000001.10:g.6534089T>G, NG_007978.1:g.50981A>G, NG_007978.1:g.50981A>C, NM_020631.6:c.575A>G, NM_020631.6:c.575A>C, NM_020631.5:c.575A>G, NM_020631.5:c.575A>C, NM_020631.4:c.575A>G, NM_020631.4:c.575A>C, NM_198681.4:c.575A>G, NM_198681.4:c.575A>C, NM_198681.3:c.806A>G, NM_198681.3:c.806A>C, NM_001042663.3:c.686A>G, NM_001042663.3:c.686A>C, NM_001042663.2:c.743A>G, NM_001042663.2:c.743A>C, NM_001042663.1:c.743A>G, NM_001042663.1:c.743A>C, NM_001265594.2:c.575A>G, NM_001265594.2:c.575A>C, NM_001265594.1:c.575A>G, NM_001265594.1:c.575A>C, NM_001265592.2:c.686A>G, NM_001265592.2:c.686A>C, NM_001265592.1:c.812A>G, NM_001265592.1:c.812A>C, NM_001265593.1:c.782A>G, NM_001265593.1:c.782A>C, NM_001042664.1:c.575A>G, NM_001042664.1:c.575A>C, NM_001042665.1:c.575A>G, NM_001042665.1:c.575A>C, NP_065682.2:p.Glu192Gly, NP_065682.2:p.Glu192Ala, NP_941374.3:p.Glu192Gly, NP_941374.3:p.Glu192Ala, NP_001036128.2:p.Glu229Gly, NP_001036128.2:p.Glu229Ala, NP_001252523.1:p.Glu192Gly, NP_001252523.1:p.Glu192Ala, NP_001252521.2:p.Glu229Gly, NP_001252521.2:p.Glu229Ala, NP_001252522.1:p.Glu261Gly, NP_001252522.1:p.Glu261Ala, NP_001036129.1:p.Glu192Gly, NP_001036129.1:p.Glu192Ala, NP_001036130.1:p.Glu192Gly, NP_001036130.1:p.Glu192Ala
    6.

    rs1488054852 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      1:6470611 (GRCh38)
      1:6530671 (GRCh37)
      Canonical SPDI:
      NC_000001.11:6470610:C:G
      Gene:
      PLEKHG5 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Clinical significance:
      likely-benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000005/1 (GnomAD_exomes)
      G=0.000007/1 (GnomAD)
      G=0.000011/3 (TOPMED)
      HGVS:
      8.

      rs1485577128 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        1:6471782 (GRCh38)
        1:6531842 (GRCh37)
        Canonical SPDI:
        NC_000001.11:6471781:C:A
        Gene:
        PLEKHG5 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        HGVS:
        14.

        rs1480269028 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          1:6470598 (GRCh38)
          1:6530658 (GRCh37)
          Canonical SPDI:
          NC_000001.11:6470597:G:A,NC_000001.11:6470597:G:T
          Gene:
          PLEKHG5 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,missense_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          HGVS:
          NC_000001.11:g.6470598G>A, NC_000001.11:g.6470598G>T, NC_000001.10:g.6530658G>A, NC_000001.10:g.6530658G>T, NG_007978.1:g.54412C>T, NG_007978.1:g.54412C>A, NM_020631.6:c.1588C>T, NM_020631.6:c.1588C>A, NM_020631.5:c.1588C>T, NM_020631.5:c.1588C>A, NM_020631.4:c.1588C>T, NM_020631.4:c.1588C>A, NM_198681.4:c.1588C>T, NM_198681.4:c.1588C>A, NM_198681.3:c.1819C>T, NM_198681.3:c.1819C>A, NM_001042663.3:c.1699C>T, NM_001042663.3:c.1699C>A, NM_001042663.2:c.1756C>T, NM_001042663.2:c.1756C>A, NM_001042663.1:c.1756C>T, NM_001042663.1:c.1756C>A, NM_001265594.2:c.1588C>T, NM_001265594.2:c.1588C>A, NM_001265594.1:c.1588C>T, NM_001265594.1:c.1588C>A, NM_001265592.2:c.1699C>T, NM_001265592.2:c.1699C>A, NM_001265592.1:c.1825C>T, NM_001265592.1:c.1825C>A, NM_001265593.1:c.1795C>T, NM_001265593.1:c.1795C>A, NM_001042664.1:c.1588C>T, NM_001042664.1:c.1588C>A, NM_001042665.1:c.1588C>T, NM_001042665.1:c.1588C>A, NG_029910.1:g.598C>T, NG_029910.1:g.598C>A, NP_065682.2:p.Arg530Trp, NP_941374.3:p.Arg530Trp, NP_001036128.2:p.Arg567Trp, NP_001252523.1:p.Arg530Trp, NP_001252521.2:p.Arg567Trp, NP_001252522.1:p.Arg599Trp, NP_001036129.1:p.Arg530Trp, NP_001036130.1:p.Arg530Trp
          16.

          rs1479724165 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            1:6473379 (GRCh38)
            1:6533439 (GRCh37)
            Canonical SPDI:
            NC_000001.11:6473378:G:C,NC_000001.11:6473378:G:T
            Gene:
            PLEKHG5 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000001.11:g.6473379G>C, NC_000001.11:g.6473379G>T, NC_000001.10:g.6533439G>C, NC_000001.10:g.6533439G>T, NG_007978.1:g.51631C>G, NG_007978.1:g.51631C>A, NM_020631.6:c.667C>G, NM_020631.6:c.667C>A, NM_020631.5:c.667C>G, NM_020631.5:c.667C>A, NM_020631.4:c.667C>G, NM_020631.4:c.667C>A, NM_198681.4:c.667C>G, NM_198681.4:c.667C>A, NM_198681.3:c.898C>G, NM_198681.3:c.898C>A, NM_001042663.3:c.778C>G, NM_001042663.3:c.778C>A, NM_001042663.2:c.835C>G, NM_001042663.2:c.835C>A, NM_001042663.1:c.835C>G, NM_001042663.1:c.835C>A, NM_001265594.2:c.667C>G, NM_001265594.2:c.667C>A, NM_001265594.1:c.667C>G, NM_001265594.1:c.667C>A, NM_001265592.2:c.778C>G, NM_001265592.2:c.778C>A, NM_001265592.1:c.904C>G, NM_001265592.1:c.904C>A, NM_001265593.1:c.874C>G, NM_001265593.1:c.874C>A, NM_001042664.1:c.667C>G, NM_001042664.1:c.667C>A, NM_001042665.1:c.667C>G, NM_001042665.1:c.667C>A, NP_065682.2:p.Pro223Ala, NP_065682.2:p.Pro223Thr, NP_941374.3:p.Pro223Ala, NP_941374.3:p.Pro223Thr, NP_001036128.2:p.Pro260Ala, NP_001036128.2:p.Pro260Thr, NP_001252523.1:p.Pro223Ala, NP_001252523.1:p.Pro223Thr, NP_001252521.2:p.Pro260Ala, NP_001252521.2:p.Pro260Thr, NP_001252522.1:p.Pro292Ala, NP_001252522.1:p.Pro292Thr, NP_001036129.1:p.Pro223Ala, NP_001036129.1:p.Pro223Thr, NP_001036130.1:p.Pro223Ala, NP_001036130.1:p.Pro223Thr
            17.

            rs1478500549 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              1:6471568 (GRCh38)
              1:6531628 (GRCh37)
              Canonical SPDI:
              NC_000001.11:6471567:C:A,NC_000001.11:6471567:C:T
              Gene:
              PLEKHG5 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              T=0.000071/2 (TOMMO)
              HGVS:
              NC_000001.11:g.6471568C>A, NC_000001.11:g.6471568C>T, NC_000001.10:g.6531628C>A, NC_000001.10:g.6531628C>T, NG_007978.1:g.53442G>T, NG_007978.1:g.53442G>A, NM_020631.6:c.1201G>T, NM_020631.6:c.1201G>A, NM_020631.5:c.1201G>T, NM_020631.5:c.1201G>A, NM_020631.4:c.1201G>T, NM_020631.4:c.1201G>A, NM_198681.4:c.1201G>T, NM_198681.4:c.1201G>A, NM_198681.3:c.1432G>T, NM_198681.3:c.1432G>A, NM_001042663.3:c.1312G>T, NM_001042663.3:c.1312G>A, NM_001042663.2:c.1369G>T, NM_001042663.2:c.1369G>A, NM_001042663.1:c.1369G>T, NM_001042663.1:c.1369G>A, NM_001265594.2:c.1201G>T, NM_001265594.2:c.1201G>A, NM_001265594.1:c.1201G>T, NM_001265594.1:c.1201G>A, NM_001265592.2:c.1312G>T, NM_001265592.2:c.1312G>A, NM_001265592.1:c.1438G>T, NM_001265592.1:c.1438G>A, NM_001265593.1:c.1408G>T, NM_001265593.1:c.1408G>A, NM_001042664.1:c.1201G>T, NM_001042664.1:c.1201G>A, NM_001042665.1:c.1201G>T, NM_001042665.1:c.1201G>A, NP_065682.2:p.Val401Leu, NP_065682.2:p.Val401Met, NP_941374.3:p.Val401Leu, NP_941374.3:p.Val401Met, NP_001036128.2:p.Val438Leu, NP_001036128.2:p.Val438Met, NP_001252523.1:p.Val401Leu, NP_001252523.1:p.Val401Met, NP_001252521.2:p.Val438Leu, NP_001252521.2:p.Val438Met, NP_001252522.1:p.Val470Leu, NP_001252522.1:p.Val470Met, NP_001036129.1:p.Val401Leu, NP_001036129.1:p.Val401Met, NP_001036130.1:p.Val401Leu, NP_001036130.1:p.Val401Met

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