PABPC1 poly(A) binding protein cytoplasmic 1

Canonical transcript: NM_002568

94 unique variant annotations were identified in 73 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
8-101716311-T-A c.*215A>T - IntronicSNV 15/15 - 1
8-101716311-T-G c.*215A>C - IntronicSNV 15/15 - 1
8-101717182-A-G c.1790T>C p.Leu597Pro Missense 13/15 - 1
8-101717195-G-C c.1777C>G p.Leu593Val Missense 13/15 - 4
8-101717218-AA-GC c.1753_1754delinsGC p.Leu585Ala Missense 13/15 - 2
8-101717220-C-T c.1752G>A p.Met584Ile Missense 13/15 - 4
8-101717233-TT-GC c.1738_1739delinsGC p.Lys580Ala Missense 13/15 - 1
8-101717237-C-T c.1735G>A p.Gly579Ser Missense 13/15 - 3
8-101717267-G-A c.1705C>T p.Leu569Phe Missense 13/15 - 1
8-101717272-AA-GC c.1699_1700delinsGC p.Phe567Ala Missense 13/15 - 3
8-101717819-AA-GC c.1684_1685delinsGC p.Leu562Ala Missense 12/15 - 1
8-101717819-A-G c.1685T>C p.Leu562Ser Missense 12/15 - 1
8-101717832-G-C c.1672C>G p.Gln558Glu Missense 12/15 - 2
8-101717884-TTG-AAC c.1618_1620delinsGTT p.Gln540Val Missense 12/15 - 1
8-101718932-C-G c.1549G>C p.Val517Leu Missense 11/15 - 2
8-101718965-G-A c.1516C>T p.Arg506Cys Missense 11/15 - 1
8-101718965-G-C c.1516C>G p.Arg506Gly Missense 11/15 - 1
8-101718968-C-T c.1513G>A p.Val505Ile Missense 11/15 - 1
8-101718987-G-A c.1494C>T p.Ala498Ala Synonymous 11/15 - 1
8-101719004-G-A c.1477C>T p.Arg493Cys Missense 11/15 - 1
8-101719012-AT-CC c.1468_1469delinsGG p.Met490Gly Missense 11/15 - 1
8-101719121-G-A c.1441C>T p.Arg481Cys Missense 10/15 - 1
8-101719138-C-T c.1424G>A p.Arg475Gln Missense 10/15 - 1
8-101719198-C-T c.1364G>A p.Arg455His Missense 10/15 - 1
8-101719208-C-A c.1354G>T p.Gly452Cys Missense 10/15 - 1
8-101721429-T-A c.1268A>T p.Tyr423Phe Missense 9/15 - 1
8-101721429-T-C c.1268A>G p.Tyr423Cys Missense 9/15 - 1
8-101721429-T-G c.1268A>C p.Tyr423Ser Missense 9/15 - 1
8-101721430-A-G c.1267T>C p.Tyr423His Missense 9/15 - 1
8-101721442-G-C c.1255C>G p.Arg419Gly Missense 9/15 - 2
8-101721447-T-G c.1250A>C p.Gln417Pro Missense 9/15 - 1
8-101721727-G-A c.1205C>T p.Pro402Leu Missense 8/15 - 1
8-101721756-A-C c.1176T>G p.Val392Val Synonymous 8/15 - 2
8-101721812-G-A c.1120C>T p.Arg374Cys Missense 8/15 - 5
8-101721817-T-C c.1115A>G p.Glu372Gly Missense 8/15 - 4
8-101721839-C-A c.1093G>T p.Val365Leu Missense 8/15 - 5
8-101721899-C-A c.1033G>T p.Glu345* Nonsense 8/15 - 1
8-101721899-C-T c.1033G>A p.Glu345Lys Missense 8/15 - 1
8-101721916-C-G c.1016G>C p.Cys339Ser Missense 8/15 - 1
8-101721917-A-T c.1015T>A p.Cys339Ser Missense 8/15 - 1
8-101721923-A-C c.1009T>G p.Phe337Val Missense 8/15 - 1
8-101721935-TT-T c.999del p.Phe335Leufs*19 Frameshift 8/15 - 2
8-101724630-C-T c.932G>A p.Arg311Gln Missense 7/15 - 1
8-101724665-TT-TG c.896delinsC p.Lys299Thr Missense 7/15 - 1
8-101724929-AAGTTCCGTCTGC-A c.816_827del p.Gln273_Leu276del InFrameDeletion 6/15 - 1
8-101724994-C-CA c.761_762insT p.Lys254Asnfs*24 Frameshift 6/15 - 3
8-101725114-G-A c.739-97C>T - IntronicSNV - 5/14 1
8-101725114-G-C c.739-97C>G - IntronicSNV - 5/14 1
8-101725362-T-C c.691A>G p.Lys231Glu Missense 5/15 - 2
8-101725374-T-C c.679A>G p.Ser227Gly Missense 5/15 - 2
8-101727386-C-T c.643+304G>A - IntronicSNV - 4/14 1
8-101727388-T-C c.643+302A>G - IntronicSNV - 4/14 1
8-101727714-G-A c.619C>T p.Leu207Phe Missense 4/15 - 1
8-101727716-C-T c.617G>A p.Arg206His Missense 4/15 - 1
8-101727750-T-C c.583A>G p.Ile195Val Missense 4/15 - 1
8-101727792-C-T c.541G>A p.Ala181Thr Missense 4/15 - 1
8-101727796-T-C c.537A>G p.Arg179Arg Synonymous 4/15 - 1
8-101727801-C-T c.532G>A p.Glu178Lys Missense 4/15 - 1
8-101727816-AA-A c.519del p.Phe173Leufs*46 Frameshift 4/15 - 1
8-101728511-C-A c.504-682G>T - IntronicSNV - 3/14 1
8-101728511-C-G c.504-682G>C - IntronicSNV - 3/14 1
8-101728511-C-T c.504-682G>A - IntronicSNV - 3/14 1
8-101730004-T-C c.500A>G p.Lys167Arg Missense 3/15 - 1
8-101730010-T-C c.494A>G p.Asp165Gly Missense 3/15 - 2
8-101730022-AT-GC c.481_482delinsGC p.Met161Ala Missense 3/15 - 4
8-101730043-G-C c.461C>G p.Ala154Gly Missense 3/15 - 1
8-101730080-A-C c.424T>G p.Phe142Val Missense 3/15 - 1
8-101730109-C-G c.395G>C p.Cys132Ser Missense 3/15 - 1
8-101730110-A-T c.394T>A p.Cys132Ser Missense 3/15 - 1
8-101730319-C-G c.383G>C p.Cys128Ser Missense 2/15 - 1
8-101730320-A-T c.382T>A p.Cys128Ser Missense 2/15 - 1
8-101730352-TC-TG c.349delinsC p.Asp117His Missense 2/15 - 1
8-101730362-C-T c.340G>A p.Ala114Thr Missense 2/15 - 1
8-101730379-T-C c.323A>G p.Lys108Arg Missense 2/15 - 1
8-101730433-ATCACGCTGAGA-A c.261_271del p.Gln88Ilefs*13 Frameshift 2/15 - 1
8-101730433-T-G c.269A>C p.Asp90Ala Missense 2/15 - 1
8-101730434-C-T c.268G>A p.Asp90Asn Missense 2/15 - 1
8-101730466-C-G c.236G>C p.Gly79Ala Missense 2/15 - 1
8-101733645-TA-GT c.166_167delinsAC p.Tyr56Thr Missense 1/15 - 1
8-101733661-A-C c.151T>G p.Ser51Ala Missense 1/15 - 5
8-101733670-T-G c.142A>C p.Thr48Pro Missense 1/15 - 2
8-101733682-T-A c.130A>T p.Arg44Trp Missense 1/15 - 1
8-101733684-C-G c.128G>C p.Cys43Ser Missense 1/15 - 1
8-101733685-A-T c.127T>A p.Cys43Ser Missense 1/15 - 1
8-101733707-C-A c.105G>T p.Gly35Gly Synonymous 1/15 - 1
8-101733707-C-G c.105G>C p.Gly35Gly Synonymous 1/15 - 1
8-101733707-C-T c.105G>A p.Gly35Gly Synonymous 1/15 - 1
8-101733725-CTC-TGT c.85_87delinsACA p.Glu29Thr Missense 1/15 - 1
8-101733732-AG-GC c.79_80delinsGC p.Leu27Ala Missense 1/15 - 3
8-101733738-GC-AG c.73_74delinsCT p.Ala25Leu Missense 1/15 - 1
8-101733776-CGA-ATC c.34_36delinsGAT p.Ser12Asp Missense 1/15 - 2
8-101733776-CGA-GAC c.34_36delinsGTC p.Ser12Val Missense 1/15 - 2
8-101733776-CG-TT c.35_36delinsAA p.Ser12* Missense 1/15 - 2
8-101733777-GA-AA c.35delinsT p.Ser12Leu Missense 1/15 - 1