Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA3
Variant:p.N105_V106insFs

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.N105_V106insFs
c.315_316insC
Surrounding Variants
1 paper
NM_025225.3
p.H107D
c.319C>G
1 paper
NM_025225.3
p.A104V
c.311C>T
1 paper
NM_025225.3
p.H107Q
c.321C>G
1 paper
NM_025225.3
p.C99*
c.297C>A
2 papers
NM_025225.3
p.C99R
c.295T>C
3 papers
NM_025225.3
p.C99G
c.295T>G
1 paper
NM_025225.3
p.I114V
c.340A>G
9 papers
NM_025225.3
p.G115C
c.343G>T
1 paper
NM_025225.3
p.G115D
c.344G>A
1 paper
NM_025225.3
p.R95*
c.283C>T
1 paper
NM_025225.3
p.S117A
c.349T>G
9 papers
NM_025225.3
p.K92N
c.276G>T
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