PNPLA3 patatin like phospholipase domain containing 3

Canonical transcript: NM_025225

96 unique variant annotations were identified in 253 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 - 2
22-44319823-C-G c.32C>G p.Ser11Cys Missense 1/9 - 1
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 - 14
22-44319934-CC-AG c.143_144delinsAG p.Ala48Glu Missense 1/9 - 1
22-44322922-T-A c.295T>A p.Cys99Ser Missense 2/9 - 1
22-44322922-T-C c.295T>C p.Cys99Arg Missense 2/9 - 1
22-44322922-T-G c.295T>G p.Cys99Gly Missense 2/9 - 1
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 - 2
22-44323070-C-T c.420+23C>T - IntronicSNV - 2/8 1
22-44323074-G-A c.420+27G>A - IntronicSNV - 2/8 2
22-44323219-A-C c.420+172A>C - IntronicSNV - 2/8 1
22-44323219-A-G c.420+172A>G - IntronicSNV - 2/8 1
22-44323955-T-A c.421-749T>A - IntronicSNV - 2/8 3
22-44323955-T-C c.421-749T>C - IntronicSNV - 2/8 3
22-44323955-T-G c.421-749T>G - IntronicSNV - 2/8 3
22-44324104-C-T c.421-600C>T - IntronicSNV - 2/8 1
22-44324181-G-A c.421-523G>A - IntronicSNV - 2/8 1
22-44324676-A-G c.421-28A>G - IntronicSNV - 2/8 8
22-44324727-C-A c.444C>A p.Ile148Ile Synonymous 3/9 - 5
22-44324727-C-G c.444C>G p.Ile148Met Missense 3/9 - 822
22-44324727-C-T c.444C>T p.Ile148Ile Synonymous 3/9 - 5
22-44324730-C-T c.447C>T p.Pro149Pro Synonymous 3/9 - 18
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 5
22-44325855-C-A c.486+1086C>A - IntronicSNV - 3/8 1
22-44325996-G-A c.486+1227G>A - IntronicSNV - 3/8 6
22-44325996-G-C c.486+1227G>C - IntronicSNV - 3/8 6
22-44325996-G-T c.486+1227G>T - IntronicSNV - 3/8 6
22-44328043-T-C c.487-715T>C - IntronicSNV - 3/8 3
22-44328730-G-A c.487-28G>A - IntronicSNV - 3/8 9
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 - 1
22-44328951-T-C c.680T>C p.Val227Ala Missense 4/9 - 4
22-44329078-C-A c.696+111C>A - IntronicSNV - 4/8 2
22-44329078-C-T c.696+111C>T - IntronicSNV - 4/8 2
22-44330031-C-T c.697-455C>T - IntronicSNV - 4/8 1
22-44330128-T-C c.697-358T>C - IntronicSNV - 4/8 1
22-44330128-T-G c.697-358T>G - 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
22-44331943-G-A c.758-988G>A - IntronicSNV - 5/8 1
22-44332570-G-A c.758-361G>A - IntronicSNV - 5/8 36
22-44332653-C-G c.758-278C>G - IntronicSNV - 5/8 4
22-44332878-C-A c.758-53C>A - IntronicSNV - 5/8 1
22-44332878-C-G c.758-53C>G - IntronicSNV - 5/8 1
22-44332878-C-T c.758-53C>T - IntronicSNV - 5/8 1
22-44332951-C-T c.778C>T p.Pro260Ser 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 4
22-44333694-T-G c.979+542T>G - IntronicSNV - 6/8 17
22-44334842-T-C c.980-1031T>C - IntronicSNV - 6/8 1
22-44335744-T-C c.980-129T>C - IntronicSNV - 6/8 1
22-44336098-T-C c.1112+93T>C - IntronicSNV - 7/8 4
22-44336310-A-G c.1112+305A>G - IntronicSNV - 7/8 1
22-44337533-G-A c.1112+1528G>A - IntronicSNV - 7/8 2
22-44338134-T-C c.1112+2129T>C - IntronicSNV - 7/8 6
22-44338134-T-G c.1112+2129T>G - IntronicSNV - 7/8 6
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 4
22-44340904-C-T c.1217+229C>T - IntronicSNV - 8/8 4
22-44341398-C-A c.1218-636C>A - IntronicSNV - 8/8 1
22-44341398-C-T c.1218-636C>T - IntronicSNV - 8/8 1
22-44341986-T-C c.1218-48T>C - IntronicSNV - 8/8 1
22-44341986-T-G c.1218-48T>G - IntronicSNV - 8/8 1
22-44342116-A-G c.1300A>G p.Lys434Glu Missense 9/9 - 24
22-44342153-C-T c.1337C>T p.Pro446Leu Missense 9/9 - 41
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 - 32
22-44342175-C-G c.1359C>G p.Ser453Arg Missense 9/9 - 1
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 - 2
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