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Links from Protein

Items: 1 to 20 of 177

2.
3.

rs1464337248 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    C>T
    Chromosome:
    no mapping
    Canonical SPDI:
    4.

    rs1463125501 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      G>A
      Chromosome:
      no mapping
      Canonical SPDI:
      6.

      rs1445960165 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:133367280 (GRCh38)
        9:136234156 (GRCh37)
        Canonical SPDI:
        NC_000009.12:133367279:G:A
        Gene:
        SURF4 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.133367280G>A, NW_009646201.1:g.193374G>A, NW_003315925.1:g.193374G>A, NC_000009.11:g.136234156G>A, XM_011518945.4:c.212C>T, XM_011518945.3:c.212C>T, XM_011518945.2:c.212C>T, XM_011518945.1:c.212C>T, NM_033161.4:c.214C>T, NM_033161.3:c.214C>T, XM_011518944.3:c.187C>T, XM_011518944.2:c.187C>T, XM_011518944.1:c.187C>T, NM_001280790.2:c.85C>T, NM_001280790.1:c.85C>T, NM_001280788.2:c.169C>T, NM_001280788.1:c.169C>T, NM_001280793.2:c.-61C>T, NM_001280793.1:c.-61C>T, NM_001280792.2:c.214C>T, NM_001280792.1:c.214C>T, NM_001280789.2:c.214C>T, NM_001280789.1:c.214C>T, NM_001280791.2:c.85C>T, NM_001280791.1:c.85C>T, XM_047423806.1:c.187C>T, XM_047423804.1:c.310C>T, XM_047423805.1:c.310C>T, XM_047423807.1:c.187C>T, XM_047423802.1:c.310C>T, XM_047423803.1:c.310C>T, XM_047423808.1:c.85C>T, XP_011517247.1:p.Pro71Leu, NP_149351.1:p.Leu72Phe, XP_011517246.1:p.Leu63Phe, NP_001267719.1:p.Leu29Phe, NP_001267717.1:p.Leu57Phe, NP_001267721.1:p.Leu72Phe, NP_001267718.1:p.Leu72Phe, NP_001267720.1:p.Leu29Phe, XP_047279762.1:p.Leu63Phe, XP_047279760.1:p.Leu104Phe, XP_047279761.1:p.Leu104Phe, XP_047279763.1:p.Leu63Phe, XP_047279758.1:p.Leu104Phe, XP_047279759.1:p.Leu104Phe, XP_047279764.1:p.Leu29Phe
        7.

        rs1443806808 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          9:133367328 (GRCh38)
          9:136234204 (GRCh37)
          Canonical SPDI:
          NC_000009.12:133367327:C:G,NC_000009.12:133367327:C:T
          Gene:
          SURF4 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000009.12:g.133367328C>G, NC_000009.12:g.133367328C>T, NW_009646201.1:g.193422C>G, NW_009646201.1:g.193422C>T, NW_003315925.1:g.193422C>G, NW_003315925.1:g.193422C>T, NC_000009.11:g.136234204C>G, NC_000009.11:g.136234204C>T, XM_011518945.4:c.164G>C, XM_011518945.4:c.164G>A, XM_011518945.3:c.164G>C, XM_011518945.3:c.164G>A, XM_011518945.2:c.164G>C, XM_011518945.2:c.164G>A, XM_011518945.1:c.164G>C, XM_011518945.1:c.164G>A, NM_033161.4:c.166G>C, NM_033161.4:c.166G>A, NM_033161.3:c.166G>C, NM_033161.3:c.166G>A, XM_011518944.3:c.139G>C, XM_011518944.3:c.139G>A, XM_011518944.2:c.139G>C, XM_011518944.2:c.139G>A, XM_011518944.1:c.139G>C, XM_011518944.1:c.139G>A, NM_001280790.2:c.37G>C, NM_001280790.2:c.37G>A, NM_001280790.1:c.37G>C, NM_001280790.1:c.37G>A, NM_001280788.2:c.121G>C, NM_001280788.2:c.121G>A, NM_001280788.1:c.121G>C, NM_001280788.1:c.121G>A, NM_001280793.2:c.-109G>C, NM_001280793.2:c.-109G>A, NM_001280793.1:c.-109G>C, NM_001280793.1:c.-109G>A, NM_001280792.2:c.166G>C, NM_001280792.2:c.166G>A, NM_001280792.1:c.166G>C, NM_001280792.1:c.166G>A, NM_001280789.2:c.166G>C, NM_001280789.2:c.166G>A, NM_001280789.1:c.166G>C, NM_001280789.1:c.166G>A, NM_001280791.2:c.37G>C, NM_001280791.2:c.37G>A, NM_001280791.1:c.37G>C, NM_001280791.1:c.37G>A, XM_047423806.1:c.139G>C, XM_047423806.1:c.139G>A, XM_047423804.1:c.262G>C, XM_047423804.1:c.262G>A, XM_047423805.1:c.262G>C, XM_047423805.1:c.262G>A, XM_047423807.1:c.139G>C, XM_047423807.1:c.139G>A, XM_047423803.1:c.262G>C, XM_047423803.1:c.262G>A, XM_047423802.1:c.262G>C, XM_047423802.1:c.262G>A, XM_047423808.1:c.37G>C, XM_047423808.1:c.37G>A, XP_011517247.1:p.Arg55Pro, XP_011517247.1:p.Arg55Gln, NP_149351.1:p.Asp56His, NP_149351.1:p.Asp56Asn, XP_011517246.1:p.Asp47His, XP_011517246.1:p.Asp47Asn, NP_001267719.1:p.Asp13His, NP_001267719.1:p.Asp13Asn, NP_001267717.1:p.Asp41His, NP_001267717.1:p.Asp41Asn, NP_001267721.1:p.Asp56His, NP_001267721.1:p.Asp56Asn, NP_001267718.1:p.Asp56His, NP_001267718.1:p.Asp56Asn, NP_001267720.1:p.Asp13His, NP_001267720.1:p.Asp13Asn, XP_047279762.1:p.Asp47His, XP_047279762.1:p.Asp47Asn, XP_047279760.1:p.Asp88His, XP_047279760.1:p.Asp88Asn, XP_047279761.1:p.Asp88His, XP_047279761.1:p.Asp88Asn, XP_047279763.1:p.Asp47His, XP_047279763.1:p.Asp47Asn, XP_047279759.1:p.Asp88His, XP_047279759.1:p.Asp88Asn, XP_047279758.1:p.Asp88His, XP_047279758.1:p.Asp88Asn, XP_047279764.1:p.Asp13His, XP_047279764.1:p.Asp13Asn
          8.

          rs1443390256 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            A>G
            Chromosome:
            no mapping
            Canonical SPDI:
            9.

            rs1438775546 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:133366608 (GRCh38)
              9:136233484 (GRCh37)
              Canonical SPDI:
              NC_000009.12:133366607:T:C
              Gene:
              SURF4 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000009.12:g.133366608T>C, NW_009646201.1:g.192702T>C, NW_003315925.1:g.192702T>C, NC_000009.11:g.136233484T>C, XM_011518945.4:c.301A>G, XM_011518945.3:c.301A>G, XM_011518945.2:c.301A>G, XM_011518945.1:c.301A>G, NM_033161.4:c.303A>G, NM_033161.3:c.303A>G, XM_011518944.3:c.276A>G, XM_011518944.2:c.276A>G, XM_011518944.1:c.276A>G, NM_001280790.2:c.174A>G, NM_001280790.1:c.174A>G, NM_001280788.2:c.258A>G, NM_001280788.1:c.258A>G, NM_001280792.2:c.303A>G, NM_001280792.1:c.303A>G, NM_001280789.2:c.303A>G, NM_001280789.1:c.303A>G, NM_001280791.2:c.174A>G, NM_001280791.1:c.174A>G, XM_047423806.1:c.276A>G, XM_047423804.1:c.399A>G, XM_047423805.1:c.399A>G, XM_047423807.1:c.276A>G, XM_047423803.1:c.399A>G, XM_047423802.1:c.399A>G, XM_047423808.1:c.174A>G, XP_011517247.1:p.Ser101Gly, NP_149351.1:p.Ile101Met, XP_011517246.1:p.Ile92Met, NP_001267719.1:p.Ile58Met, NP_001267717.1:p.Ile86Met, NP_001267721.1:p.Ile101Met, NP_001267718.1:p.Ile101Met, NP_001267720.1:p.Ile58Met, XP_047279762.1:p.Ile92Met, XP_047279760.1:p.Ile133Met, XP_047279761.1:p.Ile133Met, XP_047279763.1:p.Ile92Met, XP_047279759.1:p.Ile133Met, XP_047279758.1:p.Ile133Met, XP_047279764.1:p.Ile58Met
              10.

              rs1432062389 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                9:133363667 (GRCh38)
                9:136230543 (GRCh37)
                Canonical SPDI:
                NC_000009.12:133363666:G:A,NC_000009.12:133363666:G:C
                Gene:
                SURF4 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,3_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                C=0.000546/1 (Korea1K)
                HGVS:
                NC_000009.12:g.133363667G>A, NC_000009.12:g.133363667G>C, NW_009646201.1:g.189761G>A, NW_009646201.1:g.189761G>C, NW_003315925.1:g.189761G>A, NW_003315925.1:g.189761G>C, NC_000009.11:g.136230543G>A, NC_000009.11:g.136230543G>C, XM_011518945.4:c.447C>T, XM_011518945.4:c.447C>G, XM_011518945.3:c.447C>T, XM_011518945.3:c.447C>G, XM_011518945.2:c.447C>T, XM_011518945.2:c.447C>G, XM_011518945.1:c.447C>T, XM_011518945.1:c.447C>G, NM_033161.4:c.636C>T, NM_033161.4:c.636C>G, NM_033161.3:c.636C>T, NM_033161.3:c.636C>G, XM_011518944.3:c.609C>T, XM_011518944.3:c.609C>G, XM_011518944.2:c.609C>T, XM_011518944.2:c.609C>G, XM_011518944.1:c.609C>T, XM_011518944.1:c.609C>G, NM_001280790.2:c.507C>T, NM_001280790.2:c.507C>G, NM_001280790.1:c.507C>T, NM_001280790.1:c.507C>G, NM_001280788.2:c.591C>T, NM_001280788.2:c.591C>G, NM_001280788.1:c.591C>T, NM_001280788.1:c.591C>G, NM_001280793.2:c.285C>T, NM_001280793.2:c.285C>G, NM_001280793.1:c.285C>T, NM_001280793.1:c.285C>G, NM_001280792.2:c.*62C>T, NM_001280792.2:c.*62C>G, NM_001280792.1:c.*62C>T, NM_001280792.1:c.*62C>G, NM_001280791.2:c.507C>T, NM_001280791.2:c.507C>G, NM_001280791.1:c.507C>T, NM_001280791.1:c.507C>G, XM_047423806.1:c.609C>T, XM_047423806.1:c.609C>G, XM_047423804.1:c.732C>T, XM_047423804.1:c.732C>G, XM_047423805.1:c.732C>T, XM_047423805.1:c.732C>G, XM_047423807.1:c.609C>T, XM_047423807.1:c.609C>G, XM_047423803.1:c.732C>T, XM_047423803.1:c.732C>G, XM_047423802.1:c.732C>T, XM_047423802.1:c.732C>G, XM_047423808.1:c.507C>T, XM_047423808.1:c.507C>G
                11.

                rs1430962446 [Homo sapiens]
                  Variant type:
                  SNV:
                  Alleles:
                  AACAAGAGTCAAA>-
                  Chromosome:
                  no mapping
                  Canonical SPDI:
                  12.

                  rs1428063078 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    T>C
                    Chromosome:
                    no mapping
                    Canonical SPDI:
                    13.

                    rs1419524138 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      G>C
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      15.

                      rs1415521095 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        T>C
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        16.

                        rs1403777672 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:133367349 (GRCh38)
                          9:136234225 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:133367348:T:C
                          Gene:
                          SURF4 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000009.12:g.133367349T>C, NW_009646201.1:g.193443T>C, NW_003315925.1:g.193443T>C, NC_000009.11:g.136234225T>C, XM_011518945.4:c.143A>G, XM_011518945.3:c.143A>G, XM_011518945.2:c.143A>G, XM_011518945.1:c.143A>G, NM_033161.4:c.145A>G, NM_033161.3:c.145A>G, XM_011518944.3:c.118A>G, XM_011518944.2:c.118A>G, XM_011518944.1:c.118A>G, NM_001280790.2:c.16A>G, NM_001280790.1:c.16A>G, NM_001280788.2:c.100A>G, NM_001280788.1:c.100A>G, NM_001280793.2:c.-130A>G, NM_001280793.1:c.-130A>G, NM_001280792.2:c.145A>G, NM_001280792.1:c.145A>G, NM_001280789.2:c.145A>G, NM_001280789.1:c.145A>G, NM_001280791.2:c.16A>G, NM_001280791.1:c.16A>G, XM_047423806.1:c.118A>G, XM_047423804.1:c.241A>G, XM_047423805.1:c.241A>G, XM_047423807.1:c.118A>G, XM_047423802.1:c.241A>G, XM_047423803.1:c.241A>G, XM_047423808.1:c.16A>G, XP_011517247.1:p.Glu48Gly, NP_149351.1:p.Ser49Gly, XP_011517246.1:p.Ser40Gly, NP_001267719.1:p.Ser6Gly, NP_001267717.1:p.Ser34Gly, NP_001267721.1:p.Ser49Gly, NP_001267718.1:p.Ser49Gly, NP_001267720.1:p.Ser6Gly, XP_047279762.1:p.Ser40Gly, XP_047279760.1:p.Ser81Gly, XP_047279761.1:p.Ser81Gly, XP_047279763.1:p.Ser40Gly, XP_047279758.1:p.Ser81Gly, XP_047279759.1:p.Ser81Gly, XP_047279764.1:p.Ser6Gly
                          17.

                          rs1400471238 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->ATTGC
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            18.

                            rs1391518204 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              9:133367327 (GRCh38)
                              9:136234203 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:133367326:T:C
                              Gene:
                              SURF4 (Varview)
                              Functional Consequence:
                              synonymous_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000009.12:g.133367327T>C, NW_009646201.1:g.193421T>C, NW_003315925.1:g.193421T>C, NC_000009.11:g.136234203T>C, XM_011518945.4:c.165A>G, XM_011518945.3:c.165A>G, XM_011518945.2:c.165A>G, XM_011518945.1:c.165A>G, NM_033161.4:c.167A>G, NM_033161.3:c.167A>G, XM_011518944.3:c.140A>G, XM_011518944.2:c.140A>G, XM_011518944.1:c.140A>G, NM_001280790.2:c.38A>G, NM_001280790.1:c.38A>G, NM_001280788.2:c.122A>G, NM_001280788.1:c.122A>G, NM_001280793.2:c.-108A>G, NM_001280793.1:c.-108A>G, NM_001280792.2:c.167A>G, NM_001280792.1:c.167A>G, NM_001280789.2:c.167A>G, NM_001280789.1:c.167A>G, NM_001280791.2:c.38A>G, NM_001280791.1:c.38A>G, XM_047423806.1:c.140A>G, XM_047423804.1:c.263A>G, XM_047423805.1:c.263A>G, XM_047423807.1:c.140A>G, XM_047423803.1:c.263A>G, XM_047423802.1:c.263A>G, XM_047423808.1:c.38A>G, NP_149351.1:p.Asp56Gly, XP_011517246.1:p.Asp47Gly, NP_001267719.1:p.Asp13Gly, NP_001267717.1:p.Asp41Gly, NP_001267721.1:p.Asp56Gly, NP_001267718.1:p.Asp56Gly, NP_001267720.1:p.Asp13Gly, XP_047279762.1:p.Asp47Gly, XP_047279760.1:p.Asp88Gly, XP_047279761.1:p.Asp88Gly, XP_047279763.1:p.Asp47Gly, XP_047279759.1:p.Asp88Gly, XP_047279758.1:p.Asp88Gly, XP_047279764.1:p.Asp13Gly
                              20.

                              rs1385054074 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                T>C
                                Chromosome:
                                no mapping
                                Canonical SPDI:

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