Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA3
Variant:p.C15S

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
1 paper
NM_025225.3
p.C15S
c.44G>C
Surrounding Variants
1 paper
NM_025225.3
p.C15S
c.43T>A
1 paper
NM_025225.3
p.G14A
c.41G>C
1 paper
NM_025225.3
p.G14V
c.41G>T
2 papers
NM_025225.3
p.G14C
c.40G>T
1 paper
NM_025225.3
p.F12_A13ins2
c.36_37ins6
1 paper
NM_025225.3
p.L10F
c.30G>C
1 paper
NM_025225.3
p.L10F
c.30G>T
1 paper
NM_025225.3
p.F20Y
c.59T>A
1 paper
NM_025225.3
p.A25E
c.74C>A
1 paper
NM_025225.3
p.T26S
c.76A>T
1 paper
NM_025225.3
p.Y2*
c.6C>G
1 paper
NM_025225.3
p.L29P
c.86T>C
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