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3.

rs780414329 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    17:76736181
    Gene:
    SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    T=0.000008/1 (ExAC)
    T=0.000016/2 (TOPMED)
    HGVS:
    NC_000017.11:g.76736181C>T, NC_000017.10:g.74732263C>T, NG_032905.1:g.6231G>A, NM_003016.4:c.646G>A, NM_001195427.2:c.646G>A, NM_001195427.1:c.646G>A, NR_036608.1:n.897G>A, XR_429914.4:n.818G>A, XR_429913.4:n.818G>A, XM_017024942.2:c.646G>A, XR_002958054.1:n.818G>A, XR_002958053.1:n.818G>A, XR_002958055.1:n.818G>A, NP_003007.2:p.Glu216Lys, NP_001182356.1:p.Glu216Lys, XP_016880431.1:p.Glu216Lys
    5.

    rs779523734 has merged into rs746260518 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTGGAC>-,TTGGACTTGGAC [Show Flanks]
      Chromosome:
      17:76736308
      Gene:
      SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
      Functional Consequence:
      inframe_insertion,downstream_transcript_variant,upstream_transcript_variant,inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      -=0.000056/7 (TOPMED)
      -=0.000064/5 (PAGE_STUDY)
      HGVS:
      NC_000017.11:g.76736312_76736317TTGGAC[1], NC_000017.11:g.76736312_76736317TTGGAC[3], NC_000017.10:g.74732394_74732399TTGGAC[1], NC_000017.10:g.74732394_74732399TTGGAC[3], NG_032905.1:g.6093_6098AAGTCC[1], NG_032905.1:g.6093_6098AAGTCC[3], NM_003016.4:c.508_513AAGTCC[1], NM_003016.4:c.508_513AAGTCC[3], NM_001195427.2:c.508_513AAGTCC[1], NM_001195427.2:c.508_513AAGTCC[3], NM_001195427.1:c.508_513AAGTCC[1], NM_001195427.1:c.508_513AAGTCC[3], NR_036608.1:n.759_764AAGTCC[1], NR_036608.1:n.759_764AAGTCC[3], XR_429914.4:n.680_685AAGTCC[1], XR_429914.4:n.680_685AAGTCC[3], XR_429913.4:n.680_685AAGTCC[1], XR_429913.4:n.680_685AAGTCC[3], XM_017024942.2:c.508_513AAGTCC[1], XM_017024942.2:c.508_513AAGTCC[3], XR_002958054.1:n.680_685AAGTCC[1], XR_002958054.1:n.680_685AAGTCC[3], XR_002958053.1:n.680_685AAGTCC[1], XR_002958053.1:n.680_685AAGTCC[3], XR_002958055.1:n.680_685AAGTCC[1], XR_002958055.1:n.680_685AAGTCC[3], NP_003007.2:p.170_171KS[1], NP_003007.2:p.170_171KS[3], NP_001182356.1:p.170_171KS[1], NP_001182356.1:p.170_171KS[3], XP_016880431.1:p.170_171KS[1], XP_016880431.1:p.170_171KS[3]
      6.

      rs779043792 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        17:76736457
        Gene:
        SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000008/2 (GnomAD_exomes)
        T=0.000009/1 (ExAC)
        HGVS:
        NC_000017.11:g.76736457G>T, NC_000017.10:g.74732539G>T, NG_032905.1:g.5955C>A, NM_003016.4:c.370C>A, NM_001195427.2:c.370C>A, NM_001195427.1:c.370C>A, NR_036608.1:n.621C>A, XR_429914.4:n.542C>A, XR_429913.4:n.542C>A, XM_017024942.2:c.370C>A, XR_002958054.1:n.542C>A, XR_002958053.1:n.542C>A, XR_002958055.1:n.542C>A, NR_030366.1:n.92C>A
        7.

        rs778651965 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:76736831
          Gene:
          SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000013/3 (GnomAD_exomes)
          A=0.000016/2 (TOPMED)
          A=0.000023/2 (ExAC)
          HGVS:
          NC_000017.11:g.76736831G>A, NC_000017.10:g.74732913G>A, NG_032905.1:g.5581C>T, NM_003016.4:c.330C>T, NM_001195427.2:c.330C>T, NM_001195427.1:c.330C>T, NR_036608.1:n.581C>T, XR_429914.4:n.502C>T, XR_429913.4:n.502C>T, XM_011525238.3:c.-1124G>A, XM_011525239.3:c.-863G>A, XM_017024942.2:c.330C>T, NM_001242534.2:c.-332G>A, NM_001242534.1:c.-332G>A, NR_148231.1:n.267G>A, NR_148230.1:n.267G>A, NR_148229.1:n.267G>A, NM_001353017.1:c.-327G>A, XR_002958054.1:n.502C>T, XR_002958053.1:n.502C>T, XR_002958055.1:n.502C>T
          8.

          rs778600867 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:76736969
            Gene:
            SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.000009/1 (ExAC)
            A=0.000012/3 (GnomAD_exomes)
            A=0.000016/2 (TOPMED)
            HGVS:
            NC_000017.11:g.76736969G>A, NC_000017.10:g.74733051G>A, NG_032905.1:g.5443C>T, NM_003016.4:c.192C>T, NM_001195427.2:c.192C>T, NM_001195427.1:c.192C>T, NR_036608.1:n.443C>T, XR_429914.4:n.364C>T, XR_429913.4:n.364C>T, XM_011525238.3:c.-986G>A, XM_011525239.3:c.-725G>A, XM_017024942.2:c.192C>T, NM_001242534.2:c.-194G>A, NM_001242534.1:c.-194G>A, NR_148231.1:n.405G>A, NR_148230.1:n.405G>A, NR_148229.1:n.405G>A, NM_001353017.1:c.-189G>A, XR_002958054.1:n.364C>T, XR_002958053.1:n.364C>T, XR_002958055.1:n.364C>T
            9.

            rs778139770 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:76737104
              Gene:
              SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,synonymous_variant
              Validated:
              by frequency,by cluster
              MAF:
              A=0.00001/1 (ExAC)
              HGVS:
              NC_000017.11:g.76737104G>A, NC_000017.10:g.74733186G>A, NG_032905.1:g.5308C>T, NM_003016.4:c.57C>T, NM_001195427.2:c.57C>T, NM_001195427.1:c.57C>T, NR_036608.1:n.308C>T, XR_429914.4:n.229C>T, XR_429913.4:n.229C>T, XM_011525238.3:c.-851G>A, XM_011525239.3:c.-590G>A, XM_017024942.2:c.57C>T, XR_002958054.1:n.229C>T, XR_002958053.1:n.229C>T, XR_002958055.1:n.229C>T
              10.

              rs778124920 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:76736320
                Gene:
                SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000008/1 (ExAC)
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000017.11:g.76736320G>A, NC_000017.10:g.74732402G>A, NG_032905.1:g.6092C>T, NM_003016.4:c.507C>T, NM_001195427.2:c.507C>T, NM_001195427.1:c.507C>T, NR_036608.1:n.758C>T, XR_429914.4:n.679C>T, XR_429913.4:n.679C>T, XM_017024942.2:c.507C>T, XR_002958054.1:n.679C>T, XR_002958053.1:n.679C>T, XR_002958055.1:n.679C>T
                11.

                rs778034650 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:76736434
                  Gene:
                  SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000008/1 (ExAC)
                  T=0.000008/1 (TOPMED)
                  HGVS:
                  NC_000017.11:g.76736434C>T, NC_000017.10:g.74732516C>T, NG_032905.1:g.5978G>A, NM_003016.4:c.393G>A, NM_001195427.2:c.393G>A, NM_001195427.1:c.393G>A, NR_036608.1:n.644G>A, XR_429914.4:n.565G>A, XR_429913.4:n.565G>A, XM_017024942.2:c.393G>A, XR_002958054.1:n.565G>A, XR_002958053.1:n.565G>A, XR_002958055.1:n.565G>A
                  12.

                  rs777901001 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:76736816
                    Gene:
                    SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.000016/2 (TOPMED)
                    A=0.000017/1 (ExAC)
                    A=0.000032/1 (GnomAD)
                    HGVS:
                    NC_000017.11:g.76736816G>A, NC_000017.10:g.74732898G>A, NG_032905.1:g.5596C>T, NM_003016.4:c.345C>T, NM_001195427.2:c.345C>T, NM_001195427.1:c.345C>T, NR_036608.1:n.596C>T, XR_429914.4:n.517C>T, XR_429913.4:n.517C>T, XM_011525238.3:c.-1139G>A, XM_011525239.3:c.-878G>A, XM_017024942.2:c.345C>T, NM_001242534.2:c.-347G>A, NM_001242534.1:c.-347G>A, NR_148231.1:n.252G>A, NR_148230.1:n.252G>A, NR_148229.1:n.252G>A, NM_001353017.1:c.-342G>A, XR_002958054.1:n.517C>T, XR_002958053.1:n.517C>T, XR_002958055.1:n.517C>T
                    13.

                    rs776881024 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:76736197
                      Gene:
                      SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000008/1 (ExAC)
                      A=0.00004/5 (TOPMED)
                      HGVS:
                      NC_000017.11:g.76736197G>A, NC_000017.10:g.74732279G>A, NG_032905.1:g.6215C>T, NM_003016.4:c.630C>T, NM_001195427.2:c.630C>T, NM_001195427.1:c.630C>T, NR_036608.1:n.881C>T, XR_429914.4:n.802C>T, XR_429913.4:n.802C>T, XM_017024942.2:c.630C>T, XR_002958054.1:n.802C>T, XR_002958053.1:n.802C>T, XR_002958055.1:n.802C>T
                      14.

                      rs776880365 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:76736844
                        Gene:
                        SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.00004/5 (TOPMED)
                        A=0.000062/6 (ExAC)
                        A=0.000096/22 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.76736844G>A, NC_000017.10:g.74732926G>A, NG_032905.1:g.5568C>T, NM_003016.4:c.317C>T, NM_001195427.2:c.317C>T, NM_001195427.1:c.317C>T, NR_036608.1:n.568C>T, XR_429914.4:n.489C>T, XR_429913.4:n.489C>T, XM_011525238.3:c.-1111G>A, XM_011525239.3:c.-850G>A, XM_017024942.2:c.317C>T, NM_001242534.2:c.-319G>A, NM_001242534.1:c.-319G>A, NR_148231.1:n.280G>A, NR_148230.1:n.280G>A, NR_148229.1:n.280G>A, NM_001353017.1:c.-314G>A, XR_002958054.1:n.489C>T, XR_002958053.1:n.489C>T, XR_002958055.1:n.489C>T, NP_003007.2:p.Pro106Leu, NP_001182356.1:p.Pro106Leu, XP_016880431.1:p.Pro106Leu
                        15.

                        rs775895266 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GGACCT>- [Show Flanks]
                          Chromosome:
                          17:76736319
                          Gene:
                          SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,inframe_deletion
                          Validated:
                          by frequency,by cluster
                          MAF:
                          -=0.000004/1 (GnomAD_exomes)
                          -=0.000008/1 (ExAC)
                          HGVS:
                          NC_000017.11:g.76736320_76736325del, NC_000017.10:g.74732402_74732407del, NG_032905.1:g.6088_6093del, NM_003016.4:c.503_508del, NM_001195427.2:c.503_508del, NM_001195427.1:c.503_508del, NR_036608.1:n.754_759del, XR_429914.4:n.675_680del, XR_429913.4:n.675_680del, XM_017024942.2:c.503_508del, XR_002958054.1:n.675_680del, XR_002958053.1:n.675_680del, XR_002958055.1:n.675_680del, NP_003007.2:p.Arg168_Ser169del, NP_001182356.1:p.Arg168_Ser169del, XP_016880431.1:p.Arg168_Ser169del
                          16.

                          rs775840051 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:76737028
                            Gene:
                            SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000009/1 (ExAC)
                            HGVS:
                            NC_000017.11:g.76737028T>C, NC_000017.10:g.74733110T>C, NG_032905.1:g.5384A>G, NM_003016.4:c.133A>G, NM_001195427.2:c.133A>G, NM_001195427.1:c.133A>G, NR_036608.1:n.384A>G, XR_429914.4:n.305A>G, XR_429913.4:n.305A>G, XM_011525238.3:c.-927T>C, XM_011525239.3:c.-666T>C, XM_017024942.2:c.133A>G, NM_001242534.2:c.-135T>C, NM_001242534.1:c.-135T>C, NR_148231.1:n.464T>C, NR_148230.1:n.464T>C, NR_148229.1:n.464T>C, NM_001353017.1:c.-130T>C, XR_002958054.1:n.305A>G, XR_002958053.1:n.305A>G, XR_002958055.1:n.305A>G, NP_003007.2:p.Ile45Val, NP_001182356.1:p.Ile45Val, XP_016880431.1:p.Ile45Val
                            17.

                            rs775513335 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              17:76737146
                              Gene:
                              SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,synonymous_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.000016/2 (TOPMED)
                              T=0.000028/6 (GnomAD_exomes)
                              T=0.000059/3 (ExAC)
                              HGVS:
                              NC_000017.11:g.76737146G>A, NC_000017.11:g.76737146G>T, NC_000017.10:g.74733228G>A, NC_000017.10:g.74733228G>T, NG_032905.1:g.5266C>T, NG_032905.1:g.5266C>A, NM_003016.4:c.15C>T, NM_003016.4:c.15C>A, NM_001195427.2:c.15C>T, NM_001195427.2:c.15C>A, NM_001195427.1:c.15C>T, NM_001195427.1:c.15C>A, NR_036608.1:n.266C>T, NR_036608.1:n.266C>A, XR_429914.4:n.187C>T, XR_429914.4:n.187C>A, XR_429913.4:n.187C>T, XR_429913.4:n.187C>A, XM_011525238.3:c.-809G>A, XM_011525238.3:c.-809G>T, XM_011525239.3:c.-548G>A, XM_011525239.3:c.-548G>T, XM_017024942.2:c.15C>T, XM_017024942.2:c.15C>A, XR_002958054.1:n.187C>T, XR_002958054.1:n.187C>A, XR_002958053.1:n.187C>T, XR_002958053.1:n.187C>A, XR_002958055.1:n.187C>T, XR_002958055.1:n.187C>A
                              18.

                              rs775473667 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                17:76736356
                                Gene:
                                SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000008/1 (ExAC)
                                T=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.76736356A>T, NC_000017.10:g.74732438A>T, NG_032905.1:g.6056T>A, NM_003016.4:c.471T>A, NM_001195427.2:c.471T>A, NM_001195427.1:c.471T>A, NR_036608.1:n.722T>A, XR_429914.4:n.643T>A, XR_429913.4:n.643T>A, XM_017024942.2:c.471T>A, XR_002958054.1:n.643T>A, XR_002958053.1:n.643T>A, XR_002958055.1:n.643T>A
                                19.

                                rs775404737 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:76736305
                                  Gene:
                                  SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0./0 (ALSPAC)
                                  T=0.000008/1 (ExAC)
                                  T=0.00027/1 (TWINSUK)
                                  HGVS:
                                  NC_000017.11:g.76736305C>T, NC_000017.10:g.74732387C>T, NG_032905.1:g.6107G>A, NM_003016.4:c.522G>A, NM_001195427.2:c.522G>A, NM_001195427.1:c.522G>A, NR_036608.1:n.773G>A, XR_429914.4:n.694G>A, XR_429913.4:n.694G>A, XM_017024942.2:c.522G>A, XR_002958054.1:n.694G>A, XR_002958053.1:n.694G>A, XR_002958055.1:n.694G>A
                                  20.

                                  rs774991189 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    17:76737131
                                    Gene:
                                    SRSF2 (Varview), MFSD11 (Varview), MIR636 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,synonymous_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000032/1 (GnomAD)
                                    T=0.000032/4 (TOPMED)
                                    T=0.000064/4 (ExAC)
                                    T=0.00007/16 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.76737131C>T, NC_000017.10:g.74733213C>T, NG_032905.1:g.5281G>A, NM_003016.4:c.30G>A, NM_001195427.2:c.30G>A, NM_001195427.1:c.30G>A, NR_036608.1:n.281G>A, XR_429914.4:n.202G>A, XR_429913.4:n.202G>A, XM_011525238.3:c.-824C>T, XM_011525239.3:c.-563C>T, XM_017024942.2:c.30G>A, XR_002958054.1:n.202G>A, XR_002958053.1:n.202G>A, XR_002958055.1:n.202G>A

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