Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA4
Variant:p.P100S

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.P100S
c.298C>T
Surrounding Variants
1 paper
NM_004650.3
p.A107T
c.319G>A
1 paper
NM_004650.3
p.H112delFs
c.335delT
1 paper
NM_004650.3
p.L135insFs
c.403_404insC
1 paper
NM_004650.3
p.I136T
c.407T>C
1 paper
NM_004650.3
p.M88I
c.264G>T
1 paper
NM_004650.3
p.M88I
c.264G>C
1 paper
NM_004650.3
p.M88I
c.264G>A
1 paper
NM_004650.3
p.P83S
c.247C>T
1 paper
NM_004650.3
p.G79A
c.236G>C
1 paper
NM_004650.3
p.E72Q
c.214G>C
1 paper
NM_004650.3
p.K58*
c.172A>T
1 paper
NM_004650.3
p.A55G
c.164C>G
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