CYP2C9 cytochrome P450 family 2 subfamily C member 9

Canonical transcript: NM_000771

258 unique variant annotations were identified in 364 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
10-96698440-A-G c.1A>G p.Met1? Missense 1/9 - 2
10-96698440-A-T c.1A>T p.Met1? Missense 1/9 - 1
10-96698453-T-C c.14T>C p.Val5Ala Missense 1/9 - 1
10-96698473-T-G c.34T>G p.Ser12Ala Missense 1/9 - 1
10-96698477-G-A c.38G>A p.Cys13Tyr Missense 1/9 - 1
10-96698487-TCCT-T c.48_50del p.Leu17del InFrameDeletion 1/9 - 1
10-96698494-C-A c.55C>A p.Leu19Ile Missense 1/9 - 2
10-96698512-GGG-AGC c.73_75delinsAGC p.Gly25Ser Missense 1/9 - 1
10-96698528-C-T c.89C>T p.Pro30Leu Missense 1/9 - 2
10-96698558-G-C c.119G>C p.Gly40Ala Missense 1/9 - 1
10-96698576-G-A c.137G>A p.Gly46Asp Missense 1/9 - 2
10-96698603-C-T c.164C>T p.Thr55Ile Missense 1/9 - 1
10-96698690-T-C c.168+83T>C - IntronicSNV - 1/8 2
10-96698925-G-C c.168+318G>C - IntronicSNV - 1/8 1
10-96698925-G-T c.168+318G>T - IntronicSNV - 1/8 1
10-96699980-T-A c.168+1373T>A - IntronicSNV - 1/8 2
10-96699980-T-C c.168+1373T>C - IntronicSNV - 1/8 2
10-96700537-C-T c.169-1078C>T - IntronicSNV - 1/8 2
10-96700630-A-T c.169-985A>T - IntronicSNV - 1/8 2
10-96701660-A-G c.214A>G p.Lys72Glu Missense 2/9 - 1
10-96701664-C-T c.218C>T p.Pro73Leu Missense 2/9 - 2
10-96701672-G-A c.226G>A p.Val76Met Missense 2/9 - 1
10-96701674-G-A c.228G>A p.Val76Val Synonymous 2/9 - 3
10-96701675-C-A c.229C>A p.Leu77Met Missense 2/9 - 1
10-96701675-C-T c.229C>T p.Leu77Leu Synonymous 2/9 - 1
10-96701690-GCA-TGG c.244_246delinsTGG p.Ala82Trp Missense 2/9 - 1
10-96701690-GCA-TTT c.244_246delinsTTT p.Ala82Phe Missense 2/9 - 1
10-96701691-C-G c.245C>G p.Ala82Gly Missense 2/9 - 1
10-96701703-C-A c.257C>A p.Ala86Asp Missense 2/9 - 1
10-96701709-T-C c.263T>C p.Ile88Thr Missense 2/9 - 1
10-96701715-T-C c.269T>C p.Leu90Pro Missense 2/9 - 18
10-96701717-G-C c.271G>C p.Gly91Arg Missense 2/9 - 1
10-96701720-G-C c.274G>C p.Glu92Gln Missense 2/9 - 1
10-96701736-G-C c.290G>C p.Arg97Thr Missense 2/9 - 1
10-96701741-AT-CA c.295_296delinsCA p.Ile99His Missense 2/9 - 1
10-96701744-T-C c.298T>C p.Phe100Leu Missense 2/9 - 2
10-96701744-TT-GC c.298_299delinsGC p.Phe100Ala Missense 2/9 - 1
10-96701746-C-A c.300C>A p.Phe100Leu Missense 2/9 - 2
10-96701746-C-G c.300C>G p.Phe100Leu Missense 2/9 - 2
10-96701745-TC-GG c.299_300delinsGG p.Phe100Trp Missense 2/9 - 1
10-96701768-AGA-CAT c.322_324delinsCAT p.Arg108His Missense 2/9 - 1
10-96701768-AGA-TTT c.322_324delinsTTT p.Arg108Phe Missense 2/9 - 3
10-96701768-AG-GA c.322_323delinsGA p.Arg108Glu Missense 2/9 - 3
10-96701768-AG-GC c.322_323delinsGC p.Arg108Ala Missense 2/9 - 1
10-96701850-T-C c.331+73T>C - IntronicSNV - 2/8 2
10-96701939-T-A c.332-10T>A - IntronicSNV - 2/8 1
10-96701953-T-C c.336T>C p.Ile112Ile Synonymous 3/9 - 1
10-96701954-G-A c.337G>A p.Val113Ile Missense 3/9 - 2
10-96701954-G-C c.337G>C p.Val113Leu Missense 3/9 - 2
10-96701957-T-A c.340T>A p.Phe114Ile Missense 3/9 - 2
10-96701957-T-C c.340T>C p.Phe114Leu Missense 3/9 - 3
10-96701959-C-A c.342C>A p.Phe114Leu Missense 3/9 - 3
10-96701959-C-G c.342C>G p.Phe114Leu Missense 3/9 - 3
10-96701958-TC-GG c.341_342delinsGG p.Phe114Trp Missense 3/9 - 3
10-96701960-A-C c.343A>C p.Ser115Arg Missense 3/9 - 2
10-96701973-A-C c.356A>C p.Lys119Thr Missense 3/9 - 2
10-96701988-G-A c.371G>A p.Arg124Gln Missense 3/9 - 5
10-96701988-G-T c.371G>T p.Arg124Leu Missense 3/9 - 3
10-96701991-G-A c.374G>A p.Arg125His Missense 3/9 - 13
10-96701991-G-C c.374G>C p.Arg125Pro Missense 3/9 - 3
10-96701991-G-T c.374G>T p.Arg125Leu Missense 3/9 - 4
10-96702000-T-G c.383T>G p.Leu128Arg Missense 3/9 - 2
10-96702003-T-A c.386T>A p.Met129Lys Missense 3/9 - 1
10-96702003-T-C c.386T>C p.Met129Thr Missense 3/9 - 1
10-96702006-C-A c.389C>A p.Thr130Lys Missense 3/9 - 1
10-96702006-C-G c.389C>G p.Thr130Arg Missense 3/9 - 1
10-96702006-C-T c.389C>T p.Thr130Met Missense 3/9 - 2
10-96702007-G-A c.390G>A p.Thr130Thr Synonymous 3/9 - 1
10-96702007-G-T c.390G>T p.Thr130Thr Synonymous 3/9 - 1
10-96702011-C-T c.394C>T p.Arg132Trp Missense 3/9 - 3
10-96702012-G-A c.395G>A p.Arg132Gln Missense 3/9 - 4
10-96702032-A-T c.415A>T p.Arg139Trp Missense 3/9 - 1
10-96702039-T-C c.422T>C p.Ile141Thr Missense 3/9 - 1
10-96702046-C-T c.429C>T p.Asp143Asp Synonymous 3/9 - 1
10-96702047-C-G c.430C>G p.Arg144Gly Missense 3/9 - 1
10-96702047-C-T c.430C>T p.Arg144Cys Missense 3/9 - 479
10-96702048-G-A c.431G>A p.Arg144His Missense 3/9 - 1
10-96702048-G-T c.431G>T p.Arg144Leu Missense 3/9 - 1
10-96702062-G-A c.445G>A p.Ala149Thr Missense 3/9 - 2
10-96702065-C-T c.448C>T p.Arg150Cys Missense 3/9 - 1
10-96702066-G-A c.449G>A p.Arg150His Missense 3/9 - 73
10-96702066-G-C c.449G>C p.Arg150Pro Missense 3/9 - 39
10-96702066-G-T c.449G>T p.Arg150Leu Missense 3/9 - 42
10-96702075-T-C c.458T>C p.Val153Ala Missense 3/9 - 1
10-96702075-T-G c.458T>G p.Val153Gly Missense 3/9 - 1
10-96702295-G-A c.481+197G>A - IntronicSNV - 3/8 5
10-96702337-C-T c.481+239C>T - IntronicSNV - 3/8 1
10-96702363-T-C c.481+265T>C - IntronicSNV - 3/8 1
10-96702472-A-G c.481+374A>G - IntronicSNV - 3/8 1
10-96703220-G-A c.481+1122G>A - IntronicSNV - 3/8 1
10-96705223-A-G c.482-2313A>G - IntronicSNV - 3/8 18
10-96705223-A-T c.482-2313A>T - IntronicSNV - 3/8 18
10-96707202-C-T c.482-334C>T - IntronicSNV - 3/8 21
10-96707471-G-C c.482-65G>C - IntronicSNV - 3/8 6
10-96707508-G-A c.482-28G>A - IntronicSNV - 3/8 1
10-96707539-C-A c.485C>A p.Ser162* Nonsense 4/9 - 8
10-96707539-C-T c.485C>T p.Ser162Leu Missense 4/9 - 3
10-96707569-G-C c.515G>C p.Cys172Ser Missense 4/9 - 1
10-96707571-G-A c.517G>A p.Ala173Thr Missense 4/9 - 1
10-96707574-C-G c.520C>G p.Pro174Ala Missense 4/9 - 1
10-96707575-C-T c.521C>T p.Pro174Leu Missense 4/9 - 1
10-96707586-A-G c.532A>G p.Ile178Val Missense 4/9 - 1
10-96707593-C-T c.539C>T p.Ser180Phe Missense 4/9 - 1
10-96707610-C-T c.556C>T p.Arg186Cys Missense 4/9 - 1
10-96707629-A-G c.575A>G p.Gln192Arg Missense 4/9 - 1
10-96707647-T-C c.593T>C p.Met198Thr Missense 4/9 - 1
10-96707654-G-T c.600G>T p.Lys200Asn Missense 4/9 - 1
10-96707658-A-C c.604A>C p.Asn202His Missense 4/9 - 1
10-96707665-AC-GG c.611_612delinsGG p.Asn204Arg Missense 4/9 - 1
10-96707670-A-G c.616A>G p.Lys206Glu Missense 4/9 - 4
10-96707672-G-T c.618G>T p.Lys206Asn Missense 4/9 - 1
10-96707673-A-C c.619A>C p.Ile207Leu Missense 4/9 - 1
10-96707676-T-G c.622T>G p.Leu208Val Missense 4/9 - 2
10-96707678-G-C c.624G>C p.Leu208Phe Missense 4/9 - 1
10-96707679-A-G c.625A>G p.Ser209Gly Missense 4/9 - 1
10-96707683-G-C c.629G>C p.Ser210Thr Missense 4/9 - 1
10-96707686-C-T c.632C>T p.Pro211Leu Missense 4/9 - 1
10-96707692-T-C c.638T>C p.Ile213Thr Missense 4/9 - 1
10-96707695-A-T c.641A>T p.Gln214Leu Missense 4/9 - 4
10-96707890-T-C c.642+194T>C - IntronicSNV - 4/8 3
10-96708226-G-A c.642+530G>A - IntronicSNV - 4/8 1
10-96708750-A-G c.643-115A>G - IntronicSNV - 4/8 2
10-96708865-A-G c.643A>G p.Ile215Val Missense 5/9 - 4
10-96708869-G-A c.647G>A p.Cys216Tyr Missense 5/9 - 4
10-96708874-AA-CT c.652_653delinsCT p.Asn218Leu Missense 5/9 - 1
10-96708875-A-T c.653A>T p.Asn218Ile Missense 5/9 - 5
10-96708880-T-C c.658T>C p.Ser220Pro Missense 5/9 - 4
10-96708883-C-G c.661C>G p.Pro221Ala Missense 5/9 - 3
10-96708886-A-C c.664A>C p.Ile222Leu Missense 5/9 - 3
10-96708889-A-C c.667A>C p.Ile223Leu Missense 5/9 - 4
10-96708903-G-C c.681G>C p.Pro227Pro Synonymous 5/9 - 1
10-96708910-C-G c.688C>G p.His230Asp Missense 5/9 - 1
10-96708921-A-G c.699A>G p.Leu233Leu Synonymous 5/9 - 1
10-96708926-A-G c.704A>G p.Lys235Arg Missense 5/9 - 1
10-96708929-AA-A c.707del p.Asn236Thrfs*5 Frameshift 5/9 - 2
10-96708929-A-C c.707A>C p.Asn236Thr Missense 5/9 - 1
10-96708931-G-C c.709G>C p.Val237Leu Missense 5/9 - 1
10-96708974-A-G c.752A>G p.His251Arg Missense 5/9 - 17
10-96709013-T-C c.791T>C p.Ile264Thr Missense 5/9 - 2
10-96709023-C-T c.801C>T p.Phe267Phe Synonymous 5/9 - 2
10-96709025-T-G c.803T>G p.Leu268Arg Missense 5/9 - 1
10-96709037-A-G c.815A>G p.Glu272Gly Missense 5/9 - 3
10-96709039-A-T c.817A>T p.Lys273* Nonsense 5/9 - 1
10-96709040-AA-A c.818del p.Lys273Argfs*34 Frameshift 5/9 - 9
10-96709040-A-G c.818A>G p.Lys273Arg Missense 5/9 - 1
10-96711884-G-A c.819+2843G>A - IntronicSNV - 5/8 1
10-96712143-T-C c.819+3102T>C - IntronicSNV - 5/8 1
10-96712400-A-G c.819+3359A>G - IntronicSNV - 5/8 4
10-96723424-A-G c.820-8437A>G - IntronicSNV - 5/8 4
10-96725535-A-C c.820-6326A>C - IntronicSNV - 5/8 23
10-96725535-A-T c.820-6326A>T - IntronicSNV - 5/8 22
10-96731292-C-T c.820-569C>T - IntronicSNV - 5/8 1
10-96731310-A-G c.820-551A>G - IntronicSNV - 5/8 2
10-96731788-A-G c.820-73A>G - IntronicSNV - 5/8 2
10-96731876-C-A c.835C>A p.Pro279Thr Missense 6/9 - 9
10-96731918-G-A c.877G>A p.Asp293Asn Missense 6/9 - 2
10-96731918-GAC-CAA c.877_879delinsCAA p.Asp293Gln Missense 6/9 - 1
10-96731919-A-C c.878A>C p.Asp293Ala Missense 6/9 - 1
10-96731920-C-A c.879C>A p.Asp293Glu Missense 6/9 - 1
10-96731920-C-G c.879C>G p.Asp293Glu Missense 6/9 - 1
10-96731924-T-A c.883T>A p.Phe295Ile Missense 6/9 - 1
10-96731936-A-G c.895A>G p.Thr299Ala Missense 6/9 - 7
10-96731977-C-A c.936C>A p.Leu312Leu Synonymous 6/9 - 1
10-96732061-T-A c.961+59T>A - IntronicSNV - 6/8 1
10-96732061-T-C c.961+59T>C - IntronicSNV - 6/8 1
10-96732097-A-G c.961+95A>G - IntronicSNV - 6/8 1
10-96732731-T-A c.961+729T>A - IntronicSNV - 6/8 3
10-96732731-T-G c.961+729T>G - IntronicSNV - 6/8 3
10-96734339-G-T c.961+2337G>T - IntronicSNV - 6/8 8
10-96734582-G-A c.961+2580G>A - IntronicSNV - 6/8 1
10-96734676-T-C c.961+2674T>C - IntronicSNV - 6/8 1
10-96735126-T-G c.961+3124T>G - IntronicSNV - 6/8 1
10-96737371-C-T c.962-3569C>T - IntronicSNV - 6/8 1
10-96738892-T-C c.962-2048T>C - IntronicSNV - 6/8 1
10-96740908-T-C c.962-32T>C - IntronicSNV - 6/8 6
10-96740954-GA-TC c.976_977inv p.Glu326Ser Missense 7/9 - 1
10-96740958-T-C c.980T>C p.Ile327Thr Missense 7/9 - 3
10-96740964-G-A c.986G>A p.Arg329His Missense 7/9 - 1
10-96740967-T-C c.989T>C p.Val330Ala Missense 7/9 - 1
10-96740969-A-G c.991A>G p.Ile331Val Missense 7/9 - 1
10-96740976-G-A c.998G>A p.Arg333Lys Missense 7/9 - 1
10-96740981-CG-AC c.1003_1004delinsAC p.Arg335Thr Missense 7/9 - 2
10-96740981-C-T c.1003C>T p.Arg335Trp Missense 7/9 - 82
10-96740982-G-A c.1004G>A p.Arg335Gln Missense 7/9 - 2
10-96741000-A-G c.1022A>G p.Asp341Gly Missense 7/9 - 1
10-96741051-A-C c.1073A>C p.Tyr358Ser Missense 7/9 - 1
10-96741051-A-G c.1073A>G p.Tyr358Cys Missense 7/9 - 4
10-96741053-A-C c.1075A>C p.Ile359Leu Missense 7/9 - 530
10-96741053-A-G c.1075A>G p.Ile359Val Missense 7/9 - 317
10-96741053-AT-CC c.1075_1076delinsCC p.Ile359Pro Missense 7/9 - 1
10-96741053-AT-TA c.1075_1076delinsTA p.Ile359Tyr Missense 7/9 - 5
10-96741054-T-A c.1076T>A p.Ile359Asn Missense 7/9 - 6
10-96741054-T-C c.1076T>C p.Ile359Thr Missense 7/9 - 29
10-96741055-T-A c.1077T>A p.Ile359Ile Synonymous 7/9 - 1
10-96741055-T-C c.1077T>C p.Ile359Ile Synonymous 7/9 - 1
10-96741056-G-A c.1078G>A p.Asp360Asn Missense 7/9 - 2
10-96741058-C-A c.1080C>A p.Asp360Glu Missense 7/9 - 99
10-96741058-C-G c.1080C>G p.Asp360Glu Missense 7/9 - 107
10-96741062-C-G c.1084C>G p.Leu362Val Missense 7/9 - 1
10-96741062-CT-GC c.1084_1085delinsGC p.Leu362Ala Missense 7/9 - 1
10-96741066-C-T c.1088C>T p.Pro363Leu Missense 7/9 - 2
10-96741073-C-A c.1095C>A p.Ser365Arg Missense 7/9 - 1
10-96741114-A-G c.1136A>G p.Tyr379Cys Missense 7/9 - 1
10-96741165-C-T c.1149+38C>T - IntronicSNV - 7/8 1
10-96741426-C-T c.1149+299C>T - IntronicSNV - 7/8 4
10-96741497-G-A c.1149+370G>A - IntronicSNV - 7/8 1
10-96741497-G-C c.1149+370G>C - IntronicSNV - 7/8 1
10-96743108-T-A c.1149+1981T>A - IntronicSNV - 7/8 4
10-96743108-T-C c.1149+1981T>C - IntronicSNV - 7/8 4
10-96744064-G-A c.1150-1726G>A - IntronicSNV - 7/8 2
10-96745793-A-T c.1153A>T p.Thr385Ser Missense 8/9 - 1
10-96745799-A-C c.1159A>C p.Ile387Leu Missense 8/9 - 1
10-96745799-A-G c.1159A>G p.Ile387Val Missense 8/9 - 1
10-96745823-C-A c.1183C>A p.Leu395Ile Missense 8/9 - 1
10-96745825-A-T c.1185A>T p.Leu395Leu Synonymous 8/9 - 1
10-96745827-A-G c.1187A>G p.His396Arg Missense 8/9 - 2
10-96745830-A-C c.1190A>C p.Asp397Ala Missense 8/9 - 4
10-96745840-A-C c.1200A>C p.Glu400Asp Missense 8/9 - 1
10-96745840-A-T c.1200A>T p.Glu400Asp Missense 8/9 - 1
10-96745854-A-T c.1214A>T p.Glu405Val Missense 8/9 - 1
10-96745887-G-C c.1247G>C p.Gly416Ala Missense 8/9 - 2
10-96745893-A-C c.1253A>C p.Asn418Thr Missense 8/9 - 1
10-96745904-A-G c.1264A>G p.Ser422Gly Missense 8/9 - 1
10-96745919-C-T c.1279C>T p.Pro427Ser Missense 8/9 - 1
10-96745984-A-T c.1291+53A>T - IntronicSNV - 8/8 1
10-96746032-T-C c.1291+101T>C - IntronicSNV - 8/8 1
10-96746078-C-T c.1291+147C>T - IntronicSNV - 8/8 5
10-96746386-T-C c.1291+455T>C - IntronicSNV - 8/8 1
10-96748492-G-A c.1292-112G>A - IntronicSNV - 8/8 5
10-96748495-A-T c.1292-109A>T - IntronicSNV - 8/8 6
10-96748609-C-T c.1297C>T p.Arg433Trp Missense 9/9 - 2
10-96748612-A-T c.1300A>T p.Ile434Phe Missense 9/9 - 1
10-96748635-C-A c.1323C>A p.Ala441Ala Synonymous 9/9 - 3
10-96748635-C-T c.1323C>T p.Ala441Ala Synonymous 9/9 - 3
10-96748636-G-A c.1324G>A p.Gly442Ser Missense 9/9 - 1
10-96748640-T-C c.1328T>C p.Met443Thr Missense 9/9 - 1
10-96748653-A-C c.1341A>C p.Leu447Phe Missense 9/9 - 1
10-96748673-A-G c.1361A>G p.Gln454Arg Missense 9/9 - 1
10-96748674-G-C c.1362G>C p.Gln454His Missense 9/9 - 1
10-96748682-A-G c.1370A>G p.Asn457Ser Missense 9/9 - 2
10-96748733-A-G c.1421A>G p.Asn474Ser Missense 9/9 - 2
10-96748734-T-C c.1422T>C p.Asn474Asn Synonymous 9/9 - 1
10-96748737-A-T c.1425A>T p.Gly475Gly Synonymous 9/9 - 12
10-96748738-T-C c.1426T>C p.Phe476Leu Missense 9/9 - 2
10-96748740-T-A c.1428T>A p.Phe476Leu Missense 9/9 - 2
10-96748740-T-G c.1428T>G p.Phe476Leu Missense 9/9 - 2
10-96748739-TT-GG c.1427_1428delinsGG p.Phe476Trp Missense 9/9 - 3
10-96748741-G-A c.1429G>A p.Ala477Thr Missense 9/9 - 5
10-96748751-C-T c.1439C>T p.Pro480Leu Missense 9/9 - 1
10-96748777-C-T c.1465C>T p.Pro489Ser Missense 9/9 - 16
10-96748852-C-T c.*67C>T - 3-UTRSNV 9/9 - 1
10-96748873-C-T c.*88C>T - 3-UTRSNV 9/9 - 1
10-96748893-C-G c.*108C>G - 3-UTRSNV 9/9 - 3
10-96748893-C-T c.*108C>T - 3-UTRSNV 9/9 - 3
10-96748940-C-T c.*155C>T - 3-UTRSNV 9/9 - 1
10-96749005-A-G c.*220A>G - 3-UTRSNV 9/9 - 1
10-96749181-T-A c.*396T>A - IntergenicSNV 9/9 - 3
10-96749181-T-C c.*396T>C - IntergenicSNV 9/9 - 3