Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA4
Variant:p.L223P

PNPLA4

53 papers

RefSeq Summary

This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride ho...

Pfam Domains

Patatinaa 6–175UCSCPatatin-like phospholipase

Gene Aliases

HGNC Name

patatin like domain 4, phospholipase and triacylglycerol lipase

HGNC Alias Symbols

DXS1283E; GS2; iPLA2eta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004650.3
p.L223P
c.668T>C
Surrounding Variants
1 paper
NM_004650.3
p.L211F
c.633G>T
1 paper
NM_004650.3
p.L211F
c.633G>C
1 paper
NM_004650.3
p.L200L
c.598C>T
1 paper
NM_004650.3
p.P192L
c.575C>T
1 paper
NM_004650.3
p.P192Q
c.575C>A
4 papers
NM_004650.3
p.R187*
c.559C>T
NM_001172672.2
p.R100*
c.298C>T
1 paper
NM_004650.3
p.I172_L173delFs
c.514_518del5
1 paper
NM_004650.3
p.G165A
c.494G>C
1 paper
NM_004650.3
p.G165S
c.493G>A
1 paper
NM_004650.3
p.G164*
c.490G>T
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