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Items: 1 to 20 of 122

1.

rs1482584320 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    9:34637668 (GRCh38)
    9:34637665 (GRCh37)
    Canonical SPDI:
    NC_000009.12:34637667:C:A,NC_000009.12:34637667:C:T
    Gene:
    SIGMAR1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    NC_000009.12:g.34637668C>A, NC_000009.12:g.34637668C>T, NC_000009.11:g.34637665C>A, NC_000009.11:g.34637665C>T, NG_029945.2:g.5104G>T, NG_029945.2:g.5104G>A, NM_005866.4:c.30G>T, NM_005866.4:c.30G>A, NM_005866.3:c.30G>T, NM_005866.3:c.30G>A, NM_005866.2:c.30G>T, NM_005866.2:c.30G>A, NM_147157.3:c.30G>T, NM_147157.3:c.30G>A, NM_147157.2:c.30G>T, NM_147157.2:c.30G>A, NM_147157.1:c.30G>T, NM_147157.1:c.30G>A, NM_001282208.2:c.30G>T, NM_001282208.2:c.30G>A, NM_001282208.1:c.30G>T, NM_001282208.1:c.30G>A, NM_001282206.2:c.-224G>T, NM_001282206.2:c.-224G>A, NM_001282206.1:c.-224G>T, NM_001282206.1:c.-224G>A, NM_001282207.2:c.30G>T, NM_001282207.2:c.30G>A, NM_001282207.1:c.30G>T, NM_001282207.1:c.30G>A, NR_104108.2:n.120G>T, NR_104108.2:n.120G>A, NR_104108.1:n.159G>T, NR_104108.1:n.159G>A, NM_001282209.2:c.30G>T, NM_001282209.2:c.30G>A, NM_001282209.1:c.30G>T, NM_001282209.1:c.30G>A, NM_001282205.2:c.30G>T, NM_001282205.2:c.30G>A, NM_001282205.1:c.30G>T, NM_001282205.1:c.30G>A, NM_147160.2:c.30G>T, NM_147160.2:c.30G>A, NM_147160.1:c.30G>T, NM_147160.1:c.30G>A, NM_147159.1:c.30G>T, NM_147159.1:c.30G>A, NM_147158.1:c.30G>T, NM_147158.1:c.30G>A
    3.

    rs1480862235 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:34637602 (GRCh38)
      9:34637599 (GRCh37)
      Canonical SPDI:
      NC_000009.12:34637601:C:T
      Gene:
      SIGMAR1 (Varview)
      Functional Consequence:
      intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      4.

      rs1479520771 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:34637680 (GRCh38)
        9:34637677 (GRCh37)
        Canonical SPDI:
        NC_000009.12:34637679:G:A
        Gene:
        SIGMAR1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/1 (GnomAD_exomes)
        HGVS:
        5.

        rs1449250083 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          9:34637612 (GRCh38)
          9:34637609 (GRCh37)
          Canonical SPDI:
          NC_000009.12:34637611:C:G,NC_000009.12:34637611:C:T
          Gene:
          SIGMAR1 (Varview)
          Functional Consequence:
          stop_gained,missense_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
          Clinical significance:
          pathogenic
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000029/4 (GnomAD)
          HGVS:
          NC_000009.12:g.34637612C>G, NC_000009.12:g.34637612C>T, NC_000009.11:g.34637609C>G, NC_000009.11:g.34637609C>T, NG_029945.2:g.5160G>C, NG_029945.2:g.5160G>A, NM_005866.4:c.86G>C, NM_005866.4:c.86G>A, NM_005866.3:c.86G>C, NM_005866.3:c.86G>A, NM_005866.2:c.86G>C, NM_005866.2:c.86G>A, NM_147157.3:c.86G>C, NM_147157.3:c.86G>A, NM_147157.2:c.86G>C, NM_147157.2:c.86G>A, NM_147157.1:c.86G>C, NM_147157.1:c.86G>A, NM_001282208.2:c.86G>C, NM_001282208.2:c.86G>A, NM_001282208.1:c.86G>C, NM_001282208.1:c.86G>A, NM_001282206.2:c.-168G>C, NM_001282206.2:c.-168G>A, NM_001282206.1:c.-168G>C, NM_001282206.1:c.-168G>A, NM_001282207.2:c.86G>C, NM_001282207.2:c.86G>A, NM_001282207.1:c.86G>C, NM_001282207.1:c.86G>A, NR_104108.2:n.176G>C, NR_104108.2:n.176G>A, NR_104108.1:n.215G>C, NR_104108.1:n.215G>A, NM_001282209.2:c.86G>C, NM_001282209.2:c.86G>A, NM_001282209.1:c.86G>C, NM_001282209.1:c.86G>A, NM_001282205.2:c.86G>C, NM_001282205.2:c.86G>A, NM_001282205.1:c.86G>C, NM_001282205.1:c.86G>A, NM_147160.2:c.86G>C, NM_147160.2:c.86G>A, NM_147160.1:c.86G>C, NM_147160.1:c.86G>A, NM_147159.1:c.86G>C, NM_147159.1:c.86G>A, NM_147158.1:c.86G>C, NM_147158.1:c.86G>A, NP_005857.1:p.Trp29Ser, NP_005857.1:p.Trp29Ter, NP_671513.1:p.Trp29Ser, NP_671513.1:p.Trp29Ter, NP_001269137.1:p.Trp29Ser, NP_001269137.1:p.Trp29Ter, NP_001269136.1:p.Trp29Ser, NP_001269136.1:p.Trp29Ter, NP_001269138.1:p.Trp29Ser, NP_001269138.1:p.Trp29Ter, NP_001269134.1:p.Trp29Ser, NP_001269134.1:p.Trp29Ter
          8.
          12.

          rs1408321349 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:34637563 (GRCh38)
            9:34637560 (GRCh37)
            Canonical SPDI:
            NC_000009.12:34637562:C:T
            Gene:
            SIGMAR1 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency
            MAF:
            T=0.000005/1 (GnomAD_exomes)
            HGVS:
            14.

            rs1406092949 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              9:34637639 (GRCh38)
              9:34637636 (GRCh37)
              Canonical SPDI:
              NC_000009.12:34637638:G:A,NC_000009.12:34637638:G:T
              Gene:
              SIGMAR1 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency
              MAF:
              A=0.000007/1 (GnomAD_exomes)
              HGVS:
              NC_000009.12:g.34637639G>A, NC_000009.12:g.34637639G>T, NC_000009.11:g.34637636G>A, NC_000009.11:g.34637636G>T, NG_029945.2:g.5133C>T, NG_029945.2:g.5133C>A, NM_005866.4:c.59C>T, NM_005866.4:c.59C>A, NM_005866.3:c.59C>T, NM_005866.3:c.59C>A, NM_005866.2:c.59C>T, NM_005866.2:c.59C>A, NM_147157.3:c.59C>T, NM_147157.3:c.59C>A, NM_147157.2:c.59C>T, NM_147157.2:c.59C>A, NM_147157.1:c.59C>T, NM_147157.1:c.59C>A, NM_001282208.2:c.59C>T, NM_001282208.2:c.59C>A, NM_001282208.1:c.59C>T, NM_001282208.1:c.59C>A, NM_001282206.2:c.-195C>T, NM_001282206.2:c.-195C>A, NM_001282206.1:c.-195C>T, NM_001282206.1:c.-195C>A, NM_001282207.2:c.59C>T, NM_001282207.2:c.59C>A, NM_001282207.1:c.59C>T, NM_001282207.1:c.59C>A, NR_104108.2:n.149C>T, NR_104108.2:n.149C>A, NR_104108.1:n.188C>T, NR_104108.1:n.188C>A, NM_001282209.2:c.59C>T, NM_001282209.2:c.59C>A, NM_001282209.1:c.59C>T, NM_001282209.1:c.59C>A, NM_001282205.2:c.59C>T, NM_001282205.2:c.59C>A, NM_001282205.1:c.59C>T, NM_001282205.1:c.59C>A, NM_147160.2:c.59C>T, NM_147160.2:c.59C>A, NM_147160.1:c.59C>T, NM_147160.1:c.59C>A, NM_147159.1:c.59C>T, NM_147159.1:c.59C>A, NM_147158.1:c.59C>T, NM_147158.1:c.59C>A, NP_005857.1:p.Ala20Val, NP_005857.1:p.Ala20Glu, NP_671513.1:p.Ala20Val, NP_671513.1:p.Ala20Glu, NP_001269137.1:p.Ala20Val, NP_001269137.1:p.Ala20Glu, NP_001269136.1:p.Ala20Val, NP_001269136.1:p.Ala20Glu, NP_001269138.1:p.Ala20Val, NP_001269138.1:p.Ala20Glu, NP_001269134.1:p.Ala20Val, NP_001269134.1:p.Ala20Glu
              15.

              rs1398178063 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                9:34637328 (GRCh38)
                9:34637325 (GRCh37)
                Canonical SPDI:
                NC_000009.12:34637327:C:G,NC_000009.12:34637327:C:T
                Gene:
                SIGMAR1 (Varview)
                Functional Consequence:
                intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000014/2 (GnomAD)
                G=0.000019/5 (TOPMED)
                HGVS:
                NC_000009.12:g.34637328C>G, NC_000009.12:g.34637328C>T, NC_000009.11:g.34637325C>G, NC_000009.11:g.34637325C>T, NG_029945.2:g.5444G>C, NG_029945.2:g.5444G>A, NM_005866.4:c.244G>C, NM_005866.4:c.244G>A, NM_005866.3:c.244G>C, NM_005866.3:c.244G>A, NM_005866.2:c.244G>C, NM_005866.2:c.244G>A, NM_147157.3:c.244G>C, NM_147157.3:c.244G>A, NM_147157.2:c.244G>C, NM_147157.2:c.244G>A, NM_147157.1:c.244G>C, NM_147157.1:c.244G>A, NM_001282208.2:c.244G>C, NM_001282208.2:c.244G>A, NM_001282208.1:c.244G>C, NM_001282208.1:c.244G>A, NM_001282206.2:c.-10G>C, NM_001282206.2:c.-10G>A, NM_001282206.1:c.-10G>C, NM_001282206.1:c.-10G>A, NM_001282207.2:c.184G>C, NM_001282207.2:c.184G>A, NM_001282207.1:c.184G>C, NM_001282207.1:c.184G>A, NM_001282209.2:c.244G>C, NM_001282209.2:c.244G>A, NM_001282209.1:c.244G>C, NM_001282209.1:c.244G>A, NM_001282205.2:c.244G>C, NM_001282205.2:c.244G>A, NM_001282205.1:c.244G>C, NM_001282205.1:c.244G>A, NM_147160.2:c.*166G>C, NM_147160.2:c.*166G>A, NM_147160.1:c.*166G>C, NM_147160.1:c.*166G>A, NM_147159.1:c.244G>C, NM_147159.1:c.244G>A, NM_147158.1:c.136G>C, NM_147158.1:c.136G>A, NP_005857.1:p.Val82Leu, NP_005857.1:p.Val82Met, NP_671513.1:p.Val82Leu, NP_671513.1:p.Val82Met, NP_001269137.1:p.Val82Leu, NP_001269137.1:p.Val82Met, NP_001269136.1:p.Val62Leu, NP_001269136.1:p.Val62Met, NP_001269138.1:p.Val82Leu, NP_001269138.1:p.Val82Met, NP_001269134.1:p.Val82Leu, NP_001269134.1:p.Val82Met
                16.

                rs1396152845 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  9:34637637 (GRCh38)
                  9:34637634 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:34637636:C:G,NC_000009.12:34637636:C:T
                  Gene:
                  SIGMAR1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                  Clinical significance:
                  uncertain-significance
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000009.12:g.34637637C>G, NC_000009.12:g.34637637C>T, NC_000009.11:g.34637634C>G, NC_000009.11:g.34637634C>T, NG_029945.2:g.5135G>C, NG_029945.2:g.5135G>A, NM_005866.4:c.61G>C, NM_005866.4:c.61G>A, NM_005866.3:c.61G>C, NM_005866.3:c.61G>A, NM_005866.2:c.61G>C, NM_005866.2:c.61G>A, NM_147157.3:c.61G>C, NM_147157.3:c.61G>A, NM_147157.2:c.61G>C, NM_147157.2:c.61G>A, NM_147157.1:c.61G>C, NM_147157.1:c.61G>A, NM_001282208.2:c.61G>C, NM_001282208.2:c.61G>A, NM_001282208.1:c.61G>C, NM_001282208.1:c.61G>A, NM_001282206.2:c.-193G>C, NM_001282206.2:c.-193G>A, NM_001282206.1:c.-193G>C, NM_001282206.1:c.-193G>A, NM_001282207.2:c.61G>C, NM_001282207.2:c.61G>A, NM_001282207.1:c.61G>C, NM_001282207.1:c.61G>A, NR_104108.2:n.151G>C, NR_104108.2:n.151G>A, NR_104108.1:n.190G>C, NR_104108.1:n.190G>A, NM_001282209.2:c.61G>C, NM_001282209.2:c.61G>A, NM_001282209.1:c.61G>C, NM_001282209.1:c.61G>A, NM_001282205.2:c.61G>C, NM_001282205.2:c.61G>A, NM_001282205.1:c.61G>C, NM_001282205.1:c.61G>A, NM_147160.2:c.61G>C, NM_147160.2:c.61G>A, NM_147160.1:c.61G>C, NM_147160.1:c.61G>A, NM_147159.1:c.61G>C, NM_147159.1:c.61G>A, NM_147158.1:c.61G>C, NM_147158.1:c.61G>A, NP_005857.1:p.Val21Leu, NP_005857.1:p.Val21Met, NP_671513.1:p.Val21Leu, NP_671513.1:p.Val21Met, NP_001269137.1:p.Val21Leu, NP_001269137.1:p.Val21Met, NP_001269136.1:p.Val21Leu, NP_001269136.1:p.Val21Met, NP_001269138.1:p.Val21Leu, NP_001269138.1:p.Val21Met, NP_001269134.1:p.Val21Leu, NP_001269134.1:p.Val21Met
                  18.

                  rs1365967267 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    9:34637395 (GRCh38)
                    9:34637392 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:34637394:A:C,NC_000009.12:34637394:A:G
                    Gene:
                    SIGMAR1 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                    Clinical significance:
                    likely-benign
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.34637395A>C, NC_000009.12:g.34637395A>G, NC_000009.11:g.34637392A>C, NC_000009.11:g.34637392A>G, NG_029945.2:g.5377T>G, NG_029945.2:g.5377T>C, NM_005866.4:c.177T>G, NM_005866.4:c.177T>C, NM_005866.3:c.177T>G, NM_005866.3:c.177T>C, NM_005866.2:c.177T>G, NM_005866.2:c.177T>C, NM_147157.3:c.177T>G, NM_147157.3:c.177T>C, NM_147157.2:c.177T>G, NM_147157.2:c.177T>C, NM_147157.1:c.177T>G, NM_147157.1:c.177T>C, NM_001282208.2:c.177T>G, NM_001282208.2:c.177T>C, NM_001282208.1:c.177T>G, NM_001282208.1:c.177T>C, NM_001282206.2:c.-77T>G, NM_001282206.2:c.-77T>C, NM_001282206.1:c.-77T>G, NM_001282206.1:c.-77T>C, NM_001282207.2:c.117T>G, NM_001282207.2:c.117T>C, NM_001282207.1:c.117T>G, NM_001282207.1:c.117T>C, NR_104108.2:n.267T>G, NR_104108.2:n.267T>C, NR_104108.1:n.306T>G, NR_104108.1:n.306T>C, NM_001282209.2:c.177T>G, NM_001282209.2:c.177T>C, NM_001282209.1:c.177T>G, NM_001282209.1:c.177T>C, NM_001282205.2:c.177T>G, NM_001282205.2:c.177T>C, NM_001282205.1:c.177T>G, NM_001282205.1:c.177T>C, NM_147160.2:c.*99T>G, NM_147160.2:c.*99T>C, NM_147160.1:c.*99T>G, NM_147160.1:c.*99T>C, NM_147159.1:c.177T>G, NM_147159.1:c.177T>C, NM_147158.1:c.111T>G, NM_147158.1:c.111T>C

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