Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA3
Variant:p.P260S

PNPLA3

1,104 papers

RefSeq Summary

The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the bal...

Pfam Domains

Patatinaa 10–179UCSCPatatin-like phospholipase

Gene Aliases

HGNC Name

patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase

HGNC Previous Symbols

C22orf20; ADPN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_025225.3
p.P260S
c.778C>T
Surrounding Variants
2 papers
NM_025225.3
p.E267D
c.801A>C
2 papers
NM_025225.3
p.E267D
c.801A>T
2 papers
NM_025225.3
p.E272D
c.816G>C
2 papers
NM_025225.3
p.E272D
c.816G>T
1 paper
NM_025225.3
p.S282N
c.845G>A
2 papers
NM_025225.3
p.S282T
c.845G>C
1 paper
NM_025225.3
p.P287L
c.860C>T
1 paper
NM_025225.3
p.E288K
c.862G>A
1 paper
NM_025225.3
p.E288V
c.863A>T
1 paper
NM_025225.3
p.S289S
c.867G>A
1 paper
NM_025225.3
p.V294L
c.880G>C
1 paper
NM_025225.3
p.D299G
c.896A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."