Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.L159_Q160insFs

PNPLA2

242 papers

RefSeq Summary

This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy....

Pfam Domains

Patatinaa 10–179UCSCPatatin-like phospholipase

Gene Aliases

HGNC Name

patatin like domain 2, triacylglycerol lipase

HGNC Alias Symbols

desnutrin; TTS-2.2; ATGL; FP17548; iPLA2zeta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_020376.4
p.L159_Q160insFs
c.477_478ins4
Surrounding Variants
3 papers
NM_020376.4
p.P156delFs
c.467delC
1 paper
NM_020376.4
p.P156delins
c.467delinsCTCC
1 paper
NM_020376.4
p.P156fs
c.466_467fs
1 paper
NM_020376.4
p.L159insFs
c.475_476ins4
1 paper
NM_020376.4
p.L159fs
c.475_476fs
1 paper
NM_020376.4
p.Q160fs
c.478_479fs
1 paper
NM_020376.4
p.Q160fs
c.478_479fs
1 paper
NM_020376.4
p.P149R
c.446C>G
2 papers
NM_020376.4
p.I148M
c.444C>G
1 paper
NM_020376.4
p.S145N
c.434G>A
1 paper
NM_020376.4
p.N142K
c.426T>G
2 papers
NM_020376.4
p.N142Y
c.424A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."