PNPLA3 c.1002C>A ;(p.D334E)

Variant ID: 22-44335895-C-A

NM_025225.2(PNPLA3):c.1002C>A;(p.D334E)

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:

Structural and functional insights into ABHD5, a ligand-regulated lipase co-activator.

Scientific Reports
Tseng, Yan Yuan YY; Sanders, Matthew A MA; Zhang, Huamei H; Zhou, Li L; Chou, Chia-Yi CY; Granneman, James G JG
Publication Date: 2022-02-16

Variant appearance in text: PNPLA3: D334E
PubMed Link: 35173175
Variant Present in the following documents:
  • 41598_2021_Article_4179.pdf
View BVdb publication page