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Links from Protein

Items: 1 to 20 of 437

1.

rs781772771 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    17:8887605 (GRCh38)
    17:8790922 (GRCh37)
    Canonical SPDI:
    NC_000017.11:8887604:A:G
    Gene:
    PIK3R5 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000045/2 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000021/5 (GnomAD_exomes)
    G=0.000025/2 (ExAC)
    G=0.00463/1 (Qatari)
    HGVS:
    2.

    rs781732119 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      17:8881690 (GRCh38)
      17:8785007 (GRCh37)
      Canonical SPDI:
      NC_000017.11:8881689:C:T
      Gene:
      PIK3R5 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000028/1 (ALFA)
      T=0.000008/2 (GnomAD_exomes)
      T=0.000009/1 (ExAC)
      T=0.000019/5 (TOPMED)
      T=0.000021/3 (GnomAD)
      HGVS:
      3.

      rs781675040 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G [Show Flanks]
        Chromosome:
        17:8887537 (GRCh38)
        17:8790854 (GRCh37)
        Canonical SPDI:
        NC_000017.11:8887536:C:A,NC_000017.11:8887536:C:G
        Gene:
        PIK3R5 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (GnomAD_exomes)
        A=0.000015/1 (ExAC)
        HGVS:
        NC_000017.11:g.8887537C>A, NC_000017.11:g.8887537C>G, NC_000017.10:g.8790854C>A, NC_000017.10:g.8790854C>G, NG_030374.1:g.83176G>T, NG_030374.1:g.83176G>C, NM_014308.4:c.1763G>T, NM_014308.4:c.1763G>C, NM_014308.3:c.1763G>T, NM_014308.3:c.1763G>C, NM_001142633.3:c.1763G>T, NM_001142633.3:c.1763G>C, NM_001142633.2:c.1763G>T, NM_001142633.2:c.1763G>C, NM_001251851.2:c.605G>T, NM_001251851.2:c.605G>C, NM_001251851.1:c.605G>T, NM_001251851.1:c.605G>C, NM_001251852.2:c.605G>T, NM_001251852.2:c.605G>C, NM_001251852.1:c.605G>T, NM_001251852.1:c.605G>C, NM_001251853.2:c.605G>T, NM_001251853.2:c.605G>C, NM_001251853.1:c.605G>T, NM_001251853.1:c.605G>C, NM_001251855.2:c.605G>T, NM_001251855.2:c.605G>C, NM_001251855.1:c.605G>T, NM_001251855.1:c.605G>C, NM_001388399.1:c.605G>T, NM_001388399.1:c.605G>C, NM_001388398.1:c.605G>T, NM_001388398.1:c.605G>C, NM_001388397.1:c.605G>T, NM_001388397.1:c.605G>C, NM_001388396.1:c.1763G>T, NM_001388396.1:c.1763G>C, NM_001388400.1:c.605G>T, NM_001388400.1:c.605G>C, NP_055123.2:p.Arg588Met, NP_055123.2:p.Arg588Thr, NP_001136105.1:p.Arg588Met, NP_001136105.1:p.Arg588Thr, NP_001238780.1:p.Arg202Met, NP_001238780.1:p.Arg202Thr, NP_001238781.1:p.Arg202Met, NP_001238781.1:p.Arg202Thr, NP_001238782.1:p.Arg202Met, NP_001238782.1:p.Arg202Thr, NP_001238784.1:p.Arg202Met, NP_001238784.1:p.Arg202Thr, NP_001375328.1:p.Arg202Met, NP_001375328.1:p.Arg202Thr, NP_001375327.1:p.Arg202Met, NP_001375327.1:p.Arg202Thr, NP_001375326.1:p.Arg202Met, NP_001375326.1:p.Arg202Thr, NP_001375325.1:p.Arg588Met, NP_001375325.1:p.Arg588Thr, NP_001375329.1:p.Arg202Met, NP_001375329.1:p.Arg202Thr
        5.

        rs781197981 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:8890819 (GRCh38)
          17:8794136 (GRCh37)
          Canonical SPDI:
          NC_000017.11:8890818:G:A
          Gene:
          PIK3R5 (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000016/4 (GnomAD_exomes)
          A=0.000038/4 (ExAC)
          HGVS:
          6.

          rs781181559 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            17:8881792 (GRCh38)
            17:8785109 (GRCh37)
            Canonical SPDI:
            NC_000017.11:8881791:C:G,NC_000017.11:8881791:C:T
            Gene:
            PIK3R5 (Varview)
            Functional Consequence:
            synonymous_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            G=0.000008/1 (ExAC)
            HGVS:
            NC_000017.11:g.8881792C>G, NC_000017.11:g.8881792C>T, NC_000017.10:g.8785109C>G, NC_000017.10:g.8785109C>T, NG_030374.1:g.88921G>C, NG_030374.1:g.88921G>A, NM_014308.4:c.2295G>C, NM_014308.4:c.2295G>A, NM_014308.3:c.2295G>C, NM_014308.3:c.2295G>A, NM_001142633.3:c.2295G>C, NM_001142633.3:c.2295G>A, NM_001142633.2:c.2295G>C, NM_001142633.2:c.2295G>A, NM_001251851.2:c.1137G>C, NM_001251851.2:c.1137G>A, NM_001251851.1:c.1137G>C, NM_001251851.1:c.1137G>A, NM_001251852.2:c.1137G>C, NM_001251852.2:c.1137G>A, NM_001251852.1:c.1137G>C, NM_001251852.1:c.1137G>A, NM_001251853.2:c.1137G>C, NM_001251853.2:c.1137G>A, NM_001251853.1:c.1137G>C, NM_001251853.1:c.1137G>A, NM_001251855.2:c.1137G>C, NM_001251855.2:c.1137G>A, NM_001251855.1:c.1137G>C, NM_001251855.1:c.1137G>A, NM_001388399.1:c.1137G>C, NM_001388399.1:c.1137G>A, NM_001388398.1:c.1137G>C, NM_001388398.1:c.1137G>A, NM_001388397.1:c.1137G>C, NM_001388397.1:c.1137G>A, NM_001388396.1:c.2292G>C, NM_001388396.1:c.2292G>A, NM_001388400.1:c.1134G>C, NM_001388400.1:c.1134G>A, NP_055123.2:p.Glu765Asp, NP_001136105.1:p.Glu765Asp, NP_001238780.1:p.Glu379Asp, NP_001238781.1:p.Glu379Asp, NP_001238782.1:p.Glu379Asp, NP_001238784.1:p.Glu379Asp, NP_001375328.1:p.Glu379Asp, NP_001375327.1:p.Glu379Asp, NP_001375326.1:p.Glu379Asp, NP_001375325.1:p.Glu764Asp, NP_001375329.1:p.Glu378Asp
            7.

            rs780942089 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:8890033 (GRCh38)
              17:8793350 (GRCh37)
              Canonical SPDI:
              NC_000017.11:8890032:G:A
              Gene:
              PIK3R5 (Varview)
              Functional Consequence:
              intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000008/1 (ExAC)
              A=0.000014/2 (GnomAD)
              HGVS:
              9.

              rs780902845 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:8887159 (GRCh38)
                17:8790476 (GRCh37)
                Canonical SPDI:
                NC_000017.11:8887158:C:T
                Gene:
                PIK3R5 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000008/2 (GnomAD_exomes)
                T=0.000017/2 (ExAC)
                HGVS:
                11.

                rs780653156 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  17:8904821 (GRCh38)
                  17:8808138 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:8904820:C:A,NC_000017.11:8904820:C:G
                  Gene:
                  PIK3R5 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000016/4 (GnomAD_exomes)
                  A=0.000023/6 (TOPMED)
                  A=0.000038/3 (PAGE_STUDY)
                  A=0.000049/6 (ExAC)
                  G=0.00006/1 (TOMMO)
                  HGVS:
                  NC_000017.11:g.8904821C>A, NC_000017.11:g.8904821C>G, NC_000017.10:g.8808138C>A, NC_000017.10:g.8808138C>G, NG_030374.1:g.65892G>T, NG_030374.1:g.65892G>C, NM_014308.4:c.368G>T, NM_014308.4:c.368G>C, NM_014308.3:c.368G>T, NM_014308.3:c.368G>C, NM_001142633.3:c.368G>T, NM_001142633.3:c.368G>C, NM_001142633.2:c.368G>T, NM_001142633.2:c.368G>C, NM_001251851.2:c.-853G>T, NM_001251851.2:c.-853G>C, NM_001251851.1:c.-853G>T, NM_001251851.1:c.-853G>C, NM_001251852.2:c.-791G>T, NM_001251852.2:c.-791G>C, NM_001251852.1:c.-791G>T, NM_001251852.1:c.-791G>C, NM_001251853.2:c.-637G>T, NM_001251853.2:c.-637G>C, NM_001251853.1:c.-637G>T, NM_001251853.1:c.-637G>C, NM_001251855.2:c.-616G>T, NM_001251855.2:c.-616G>C, NM_001251855.1:c.-616G>T, NM_001251855.1:c.-616G>C, NM_001388399.1:c.-791G>T, NM_001388399.1:c.-791G>C, NM_001388398.1:c.-868G>T, NM_001388398.1:c.-868G>C, NM_001388397.1:c.-789G>T, NM_001388397.1:c.-789G>C, NM_001388396.1:c.368G>T, NM_001388396.1:c.368G>C, NM_001388400.1:c.-637G>T, NM_001388400.1:c.-637G>C, NP_055123.2:p.Cys123Phe, NP_055123.2:p.Cys123Ser, NP_001136105.1:p.Cys123Phe, NP_001136105.1:p.Cys123Ser, NP_001375325.1:p.Cys123Phe, NP_001375325.1:p.Cys123Ser
                  14.

                  rs780537367 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:8888239 (GRCh38)
                    17:8791556 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:8888238:C:T
                    Gene:
                    PIK3R5 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000051/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    T=0.00002/5 (GnomAD_exomes)
                    T=0.000025/3 (ExAC)
                    HGVS:
                    18.

                    rs779819173 has merged into rs757971428 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CTC>-,CTCCTC,CTCCTCCTCCTC [Show Flanks]
                      Chromosome:
                      17:8888812 (GRCh38)
                      17:8792129 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:8888798:CCTCCTCCTCCTCCTC:CCTCCTCCTCCTC,NC_000017.11:8888798:CCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTC,NC_000017.11:8888798:CCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTC
                      Gene:
                      PIK3R5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,5_prime_UTR_variant,inframe_deletion,inframe_insertion
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CCTCCTCCTCCTC=0.001727/36 (ALFA)
                      -=0.000008/2 (TOPMED)
                      CCTCCTCCT=0.000057/8 (GnomAD)
                      HGVS:
                      NC_000017.11:g.8888800CTC[4], NC_000017.11:g.8888800CTC[6], NC_000017.11:g.8888800CTC[8], NC_000017.10:g.8792117CTC[4], NC_000017.10:g.8792117CTC[6], NC_000017.10:g.8792117CTC[8], NG_030374.1:g.81900AGG[4], NG_030374.1:g.81900AGG[6], NG_030374.1:g.81900AGG[8], NM_014308.4:c.974AGG[4], NM_014308.4:c.974AGG[6], NM_014308.4:c.974AGG[8], NM_014308.3:c.974AGG[4], NM_014308.3:c.974AGG[6], NM_014308.3:c.974AGG[8], NM_001142633.3:c.974AGG[4], NM_001142633.3:c.974AGG[6], NM_001142633.3:c.974AGG[8], NM_001142633.2:c.974AGG[4], NM_001142633.2:c.974AGG[6], NM_001142633.2:c.974AGG[8], NM_001251851.2:c.-185AGG[4], NM_001251851.2:c.-185AGG[6], NM_001251851.2:c.-185AGG[8], NM_001251851.1:c.-185AGG[4], NM_001251851.1:c.-185AGG[6], NM_001251851.1:c.-185AGG[8], NM_001251852.2:c.-185AGG[4], NM_001251852.2:c.-185AGG[6], NM_001251852.2:c.-185AGG[8], NM_001251852.1:c.-185AGG[4], NM_001251852.1:c.-185AGG[6], NM_001251852.1:c.-185AGG[8], NM_001251853.2:c.-185AGG[4], NM_001251853.2:c.-185AGG[6], NM_001251853.2:c.-185AGG[8], NM_001251853.1:c.-185AGG[4], NM_001251853.1:c.-185AGG[6], NM_001251853.1:c.-185AGG[8], NM_001251855.2:c.-185AGG[4], NM_001251855.2:c.-185AGG[6], NM_001251855.2:c.-185AGG[8], NM_001251855.1:c.-185AGG[4], NM_001251855.1:c.-185AGG[6], NM_001251855.1:c.-185AGG[8], NM_001388399.1:c.-185AGG[4], NM_001388399.1:c.-185AGG[6], NM_001388399.1:c.-185AGG[8], NM_001388398.1:c.-185AGG[4], NM_001388398.1:c.-185AGG[6], NM_001388398.1:c.-185AGG[8], NM_001388397.1:c.-185AGG[4], NM_001388397.1:c.-185AGG[6], NM_001388397.1:c.-185AGG[8], NM_001388396.1:c.974AGG[4], NM_001388396.1:c.974AGG[6], NM_001388396.1:c.974AGG[8], NM_001388400.1:c.-185AGG[4], NM_001388400.1:c.-185AGG[6], NM_001388400.1:c.-185AGG[8], NP_055123.2:p.Glu329del, NP_055123.2:p.Glu329dup, NP_055123.2:p.Glu327_Glu329dup, NP_001136105.1:p.Glu329del, NP_001136105.1:p.Glu329dup, NP_001136105.1:p.Glu327_Glu329dup, NP_001375325.1:p.Glu329del, NP_001375325.1:p.Glu329dup, NP_001375325.1:p.Glu327_Glu329dup

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