PNPLA3 c.862G>A ;(p.E288K)

Variant ID: 22-44333035-G-A

NM_025225.2(PNPLA3):c.862G>A;(p.E288K)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.

Nature Genetics
Romeo, Stefano S; Kozlitina, Julia J; Xing, Chao C; Pertsemlidis, Alexander A; Cox, David D; Pennacchio, Len A LA; Boerwinkle, Eric E; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2008-12

Variant appearance in text: PNPLA3: E288K
PubMed Link: 18820647
Variant Present in the following documents:
View BVdb publication page