Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA3
Variant:p.L305L

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
2 papers
NM_025225.3
p.L305L
c.915G>C
Surrounding Variants
1 paper
NM_025225.3
p.R306G
c.916C>G
1 paper
NM_025225.3
p.D299G
c.896A>G
1 paper
NM_025225.3
p.D299V
c.896A>T
1 paper
NM_025225.3
p.S315_I316insC
c.943_947ins3
1 paper
NM_025225.3
p.V294L
c.880G>C
1 paper
NM_025225.3
p.D318N
c.952G>A
1 paper
NM_025225.3
p.S321L
c.962C>T
1 paper
NM_025225.3
p.S289S
c.867G>A
1 paper
NM_025225.3
p.E288V
c.863A>T
1 paper
NM_025225.3
p.E288K
c.862G>A
1 paper
NM_025225.3
p.P287L
c.860C>T
1 paper
NM_025225.3
p.T326S
c.976A>T
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