Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA3
Variant:p.I148M

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
987 papers
NM_025225.3
p.I148M
c.444C>G
Surrounding Variants
1 paper
NM_025225.3
p.I148_P149delins
c.444_447delinsGCCT
3 papers
NM_025225.3
p.P149P
c.447C>T
1 paper
NM_025225.3
p.R160I
c.479G>T
6 papers
NM_025225.3
p.V162M
c.484G>A
1 paper
NM_025225.3
p.D140_A141Splc
c.421-28A>G
1 paper
NM_025225.3
p.V162_R163Splc
c.486+86G>A
1 paper
NM_025225.3
p.D140_A141Splc
c.420+23C>T
2 papers
NM_025225.3
p.V139L
c.415G>C
3 papers
NM_025225.3
p.E137Q
c.409G>C
1 paper
NM_025225.3
p.R133Q
c.398G>A
1 paper
NM_025225.3
p.S130P
c.388T>C
1 paper
NM_025225.3
p.S117A
c.349T>G
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