Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA3
Variant:p.P446L

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
24 papers
NM_025225.3
p.P446L
c.1337C>T
Surrounding Variants
1 paper
NM_025225.3
p.T445I
c.1334C>T
1 paper
NM_025225.3
p.R447Q
c.1340G>A
1 paper
NM_025225.3
p.T445A
c.1333A>G
1 paper
NM_025225.3
p.A444V
c.1331C>T
2 papers
NM_025225.3
p.S453R
c.1357A>C
29 papers
NM_025225.3
p.S453I
c.1358G>T
2 papers
NM_025225.3
p.S453R
c.1359C>A
2 papers
NM_025225.3
p.S453R
c.1359C>G
2 papers
NM_025225.3
p.N455S
c.1364A>G
2 papers
NM_025225.3
p.G435S
c.1303G>A
18 papers
NM_025225.3
p.K434E
c.1300A>G
1 paper
NM_025225.3
p.S432C
c.1295C>G
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