Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA4
Variant:p.L25R

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.L25R
c.74T>G
Surrounding Variants
1 paper
NM_004650.3
p.C26R
c.76T>C
1 paper
NM_004650.3
p.K30fs
c.88_89fs
1 paper
NM_004650.3
p.G12V
c.35G>T
1 paper
NM_004650.3
p.C11S
c.32G>C
1 paper
NM_004650.3
p.A10V
c.29C>T
1 paper
NM_004650.3
p.L6L
c.18A>G
1 paper
NM_004650.3
p.M1insFs
c.2dupT
1 paper
NM_004650.3
p.M1T
c.2T>C
1 paper
NM_004650.3
p.M1V
c.1A>G
2 papers
NM_004650.3
p.S50Fs
c.148_149delinsCFs
1 paper
NM_004650.3
p.A55G
c.164C>G
1 paper
NM_004650.3
p.K58*
c.172A>T
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