Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA3
Variant:p.S47A

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
28 papers
NM_025225.3
p.S47A
c.139T>G
Surrounding Variants
1 paper
NM_025225.3
p.A46V
c.137C>T
1 paper
NM_025225.3
p.A50V
c.149C>T
1 paper
NM_025225.3
p.L43M
c.127T>A
7 papers
NM_025225.3
p.D39H
c.115G>C
1 paper
NM_025225.3
p.V56V
c.168C>G
1 paper
NM_025225.3
p.L36_L37ins6
c.106_110ins18
1 paper
NM_025225.3
p.G59S
c.175G>A
3 papers
NM_025225.3
p.A33A
c.99C>G
1 paper
NM_025225.3
p.A33G
c.98C>G
1 paper
NM_025225.3
p.A33T
c.97G>A
1 paper
NM_025225.3
p.E63Splc
c.187+1G>A
1 paper
NM_025225.3
p.E63Splc
c.187+1G>C
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