PNPLA3 patatin like phospholipase domain containing 3

Canonical transcript: NM_025225

159 unique variant annotations were identified in 354 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
22-44319752-C-G c.-40C>G - 5-UTRSNV 1/9 - 1
22-44319822-TCC-GAG c.31_33delinsGAG p.Ser11Glu Missense 1/9 - 1
22-44319822-TC-GA c.31_32inv p.Ser11Asp Missense 1/9 - 1
22-44319822-T-G c.31T>G p.Ser11Ala Missense 1/9 - 3
22-44319823-C-G c.32C>G p.Ser11Cys Missense 1/9 - 2
22-44319837-G-C c.46G>C p.Gly16Arg Missense 1/9 - 1
22-44319847-G-C c.56G>C p.Gly19Ala Missense 1/9 - 1
22-44319873-TGC-GAG c.82_84delinsGAG p.Cys28Glu Missense 1/9 - 1
22-44319896-C-A c.105C>A p.His35Gln Missense 1/9 - 1
22-44319896-C-G c.105C>G p.His35Gln Missense 1/9 - 1
22-44319930-T-G c.139T>G p.Ser47Ala Missense 1/9 - 16
22-44319934-CC-AG c.143_144delinsAG p.Ala48Glu Missense 1/9 - 1
22-44321149-A-G c.187+1171A>G - IntronicSNV - 1/8 1
22-44322910-C-T c.283C>T p.Arg95* Nonsense 2/9 - 1
22-44322922-T-A c.295T>A p.Cys99Ser Missense 2/9 - 6
22-44322922-T-C c.295T>C p.Cys99Arg Missense 2/9 - 6
22-44322922-T-G c.295T>G p.Cys99Gly Missense 2/9 - 7
22-44322943-G-A c.316G>A p.Val106Ile Missense 2/9 - 1
22-44322970-G-T c.343G>T p.Gly115Cys Missense 2/9 - 6
22-44323070-C-T c.420+23C>T - IntronicSNV - 2/8 1
22-44323074-G-A c.420+27G>A - IntronicSNV - 2/8 3
22-44323219-A-C c.420+172A>C - IntronicSNV - 2/8 2
22-44323219-A-G c.420+172A>G - IntronicSNV - 2/8 2
22-44323597-C-T c.420+550C>T - IntronicSNV - 2/8 1
22-44323955-T-A c.421-749T>A - IntronicSNV - 2/8 8
22-44323955-T-C c.421-749T>C - IntronicSNV - 2/8 8
22-44323955-T-G c.421-749T>G - IntronicSNV - 2/8 8
22-44324104-C-T c.421-600C>T - IntronicSNV - 2/8 2
22-44324171-C-T c.421-533C>T - IntronicSNV - 2/8 1
22-44324181-G-A c.421-523G>A - IntronicSNV - 2/8 2
22-44324676-A-G c.421-28A>G - IntronicSNV - 2/8 9
22-44324727-C-A c.444C>A p.Ile148Ile Synonymous 3/9 - 6
22-44324727-C-G c.444C>G p.Ile148Met Missense 3/9 - 895
22-44324727-C-T c.444C>T p.Ile148Ile Synonymous 3/9 - 6
22-44324730-C-A c.447C>A p.Pro149Pro Synonymous 3/9 - 1
22-44324730-C-G c.447C>G p.Pro149Pro Synonymous 3/9 - 1
22-44324730-C-T c.447C>T p.Pro149Pro Synonymous 3/9 - 28
22-44324743-C-T c.460C>T p.Leu154Phe Missense 3/9 - 1
22-44324767-G-A c.484G>A p.Val162Met Missense 3/9 - 1
22-44324769-G-A c.486G>A p.Val162Val Synonymous 3/9 - 1
22-44324769-G-C c.486G>C p.Val162Val Synonymous 3/9 - 1
22-44324769-G-T c.486G>T p.Val162Val Synonymous 3/9 - 1
22-44324855-G-A c.486+86G>A - IntronicSNV - 3/8 9
22-44325516-G-A c.486+747G>A - IntronicSNV - 3/8 2
22-44325516-G-T c.486+747G>T - IntronicSNV - 3/8 2
22-44325565-C-T c.486+796C>T - IntronicSNV - 3/8 2
22-44325631-C-T c.486+862C>T - IntronicSNV - 3/8 2
22-44325855-C-A c.486+1086C>A - IntronicSNV - 3/8 3
22-44325996-G-A c.486+1227G>A - IntronicSNV - 3/8 12
22-44325996-G-C c.486+1227G>C - IntronicSNV - 3/8 12
22-44325996-G-T c.486+1227G>T - IntronicSNV - 3/8 12
22-44326272-T-C c.486+1503T>C - IntronicSNV - 3/8 2
22-44326700-C-T c.486+1931C>T - IntronicSNV - 3/8 3
22-44327075-C-T c.487-1683C>T - IntronicSNV - 3/8 1
22-44327179-G-A c.487-1579G>A - IntronicSNV - 3/8 2
22-44327192-A-G c.487-1566A>G - IntronicSNV - 3/8 2
22-44327273-A-G c.487-1485A>G - IntronicSNV - 3/8 2
22-44328043-T-C c.487-715T>C - IntronicSNV - 3/8 8
22-44328688-G-C c.487-70G>C - IntronicSNV - 3/8 1
22-44328688-G-T c.487-70G>T - IntronicSNV - 3/8 1
22-44328730-G-A c.487-28G>A - IntronicSNV - 3/8 14
22-44328832-C-G c.561C>G p.Phe187Leu Missense 4/9 - 1
22-44328832-C-T c.561C>T p.Phe187Phe Synonymous 4/9 - 1
22-44328899-CTC-TGG c.628_630delinsTGG p.Leu210Trp Missense 4/9 - 1
22-44328908-C-G c.637C>G p.Arg213Gly Missense 4/9 - 1
22-44328911-C-T c.640C>T p.Leu214Phe Missense 4/9 - 1
22-44328930-A-G c.659A>G p.Tyr220Cys Missense 4/9 - 2
22-44328951-T-C c.680T>C p.Val227Ala Missense 4/9 - 5
22-44329078-C-A c.696+111C>A - IntronicSNV - 4/8 7
22-44329078-C-T c.696+111C>T - IntronicSNV - 4/8 7
22-44329275-G-A c.696+308G>A - IntronicSNV - 4/8 2
22-44329275-G-T c.696+308G>T - IntronicSNV - 4/8 2
22-44330031-C-T c.697-455C>T - IntronicSNV - 4/8 3
22-44330128-T-C c.697-358T>C - IntronicSNV - 4/8 4
22-44330128-T-G c.697-358T>G - IntronicSNV - 4/8 4
22-44330274-G-A c.697-212G>A - IntronicSNV - 4/8 1
22-44330481-C-A c.697-5C>A - IntronicSNV - 4/8 1
22-44331060-G-A c.757+514G>A - IntronicSNV - 5/8 1
22-44331060-G-C c.757+514G>C - IntronicSNV - 5/8 1
22-44331513-C-G c.757+967C>G - IntronicSNV - 5/8 2
22-44331778-C-A c.758-1153C>A - IntronicSNV - 5/8 2
22-44331778-C-G c.758-1153C>G - IntronicSNV - 5/8 2
22-44331778-C-T c.758-1153C>T - IntronicSNV - 5/8 2
22-44331815-C-G c.758-1116C>G - IntronicSNV - 5/8 2
22-44331943-G-A c.758-988G>A - IntronicSNV - 5/8 5
22-44332477-T-C c.758-454T>C - IntronicSNV - 5/8 2
22-44332493-T-C c.758-438T>C - IntronicSNV - 5/8 2
22-44332570-G-A c.758-361G>A - IntronicSNV - 5/8 48
22-44332653-C-G c.758-278C>G - IntronicSNV - 5/8 7
22-44332878-C-A c.758-53C>A - IntronicSNV - 5/8 3
22-44332878-C-G c.758-53C>G - IntronicSNV - 5/8 3
22-44332878-C-T c.758-53C>T - IntronicSNV - 5/8 3
22-44332951-C-T c.778C>T p.Pro260Ser Missense 6/9 - 1
22-44332993-G-A c.820G>A p.Ala274Thr Missense 6/9 - 1
22-44332993-G-C c.820G>C p.Ala274Pro Missense 6/9 - 1
22-44332993-G-T c.820G>T p.Ala274Ser Missense 6/9 - 1
22-44333009-C-A c.836C>A p.Ala279Glu Missense 6/9 - 1
22-44333035-G-A c.862G>A p.Glu288Lys Missense 6/9 - 1
22-44333065-GGA-TGT c.892_894delinsTGT p.Gly298Cys Missense 6/9 - 1
22-44333172-A-G c.979+20A>G - IntronicSNV - 6/8 7
22-44333370-A-G c.979+218A>G - IntronicSNV - 6/8 2
22-44333479-C-G c.979+327C>G - IntronicSNV - 6/8 3
22-44333479-C-T c.979+327C>T - IntronicSNV - 6/8 3
22-44333694-T-G c.979+542T>G - IntronicSNV - 6/8 26
22-44333945-C-G c.979+793C>G - IntronicSNV - 6/8 2
22-44333968-T-C c.979+816T>C - IntronicSNV - 6/8 2
22-44334476-T-C c.979+1324T>C - IntronicSNV - 6/8 2
22-44334476-T-G c.979+1324T>G - IntronicSNV - 6/8 2
22-44334486-T-C c.979+1334T>C - IntronicSNV - 6/8 2
22-44334486-T-G c.979+1334T>G - IntronicSNV - 6/8 2
22-44334529-T-C c.980-1344T>C - IntronicSNV - 6/8 3
22-44334842-T-C c.980-1031T>C - IntronicSNV - 6/8 3
22-44335331-T-C c.980-542T>C - IntronicSNV - 6/8 2
22-44335406-C-A c.980-467C>A - IntronicSNV - 6/8 2
22-44335416-C-T c.980-457C>T - IntronicSNV - 6/8 2
22-44335453-G-T c.980-420G>T - IntronicSNV - 6/8 2
22-44335744-T-C c.980-129T>C - IntronicSNV - 6/8 6
22-44335885-A-G c.992A>G p.Glu331Gly Missense 7/9 - 1
22-44336098-T-C c.1112+93T>C - IntronicSNV - 7/8 9
22-44336310-A-G c.1112+305A>G - IntronicSNV - 7/8 4
22-44336496-T-C c.1112+491T>C - IntronicSNV - 7/8 2
22-44336957-G-A c.1112+952G>A - IntronicSNV - 7/8 2
22-44337533-G-A c.1112+1528G>A - IntronicSNV - 7/8 8
22-44338134-T-C c.1112+2129T>C - IntronicSNV - 7/8 7
22-44338134-T-G c.1112+2129T>G - IntronicSNV - 7/8 7
22-44339526-C-G c.1113-1045C>G - IntronicSNV - 7/8 2
22-44339526-C-T c.1113-1045C>T - IntronicSNV - 7/8 2
22-44340086-C-G c.1113-485C>G - IntronicSNV - 7/8 2
22-44340086-C-T c.1113-485C>T - IntronicSNV - 7/8 2
22-44340618-A-G c.1160A>G p.Gln387Arg Missense 8/9 - 1
22-44340642-C-G c.1184C>G p.Thr395Ser Missense 8/9 - 1
22-44340904-C-G c.1217+229C>G - IntronicSNV - 8/8 5
22-44340904-C-T c.1217+229C>T - IntronicSNV - 8/8 5
22-44340922-T-G c.1217+247T>G - IntronicSNV - 8/8 3
22-44341193-T-C c.1217+518T>C - IntronicSNV - 8/8 3
22-44341298-G-A c.1217+623G>A - IntronicSNV - 8/8 2
22-44341398-C-A c.1218-636C>A - IntronicSNV - 8/8 3
22-44341398-C-T c.1218-636C>T - IntronicSNV - 8/8 3
22-44341606-T-C c.1218-428T>C - IntronicSNV - 8/8 2
22-44341666-A-G c.1218-368A>G - IntronicSNV - 8/8 2
22-44341672-T-C c.1218-362T>C - IntronicSNV - 8/8 2
22-44341986-T-C c.1218-48T>C - IntronicSNV - 8/8 5
22-44341986-T-G c.1218-48T>G - IntronicSNV - 8/8 5
22-44342116-A-G c.1300A>G p.Lys434Glu Missense 9/9 - 36
22-44342153-C-T c.1337C>T p.Pro446Leu Missense 9/9 - 44
22-44342156-G-A c.1340G>A p.Arg447Gln Missense 9/9 - 1
22-44342174-G-T c.1358G>T p.Ser453Ile Missense 9/9 - 33
22-44342175-C-G c.1359C>G p.Ser453Arg Missense 9/9 - 2
22-44342175-C-T c.1359C>T p.Ser453Ser Synonymous 9/9 - 1
22-44342313-C-G c.*51C>G - 3-UTRSNV 9/9 - 1
22-44342313-C-T c.*51C>T - 3-UTRSNV 9/9 - 1
22-44342325-C-T c.*63C>T - 3-UTRSNV 9/9 - 4
22-44342394-T-A c.*132T>A - 3-UTRSNV 9/9 - 1
22-44342394-T-C c.*132T>C - 3-UTRSNV 9/9 - 1
22-44342655-G-C c.*393G>C - 3-UTRSNV 9/9 - 1
22-44342691-T-C c.*429T>C - 3-UTRSNV 9/9 - 1
22-44342969-T-C c.*707T>C - 3-UTRSNV 9/9 - 2
22-44342969-T-G c.*707T>G - 3-UTRSNV 9/9 - 2
22-44343151-A-G c.*889A>G - 3-UTRSNV 9/9 - 2