Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA8
Variant:p.I11insFs

PNPLA8

69 papers

RefSeq Summary

This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phosph...

Pfam Domains

Patatinaa 445–640UCSCPatatin-like phospholipase

Gene Aliases

HGNC Name

patatin like domain 8, phospholipase A2

HGNC Alias Symbols

IPLA2G; IPLA2-2; iPLA2gamma

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001256007.3
p.I11insFs
c.31_32dupAT
Surrounding Variants
1 paper
NM_001256007.3
p.Y12fs
c.34_35fs
1 paper
NM_001256007.3
p.T6delFs
c.18delA
1 paper
NM_001256007.3
p.G22fs
c.64_65fs
2 papers
NM_001256007.3
p.G22delFs
c.65_66delCC
1 paper
NM_001256007.3
p.A64A
c.192A>G
2 papers
NM_001256007.3
p.H65_S66del2
c.193_197del6
1 paper
NM_001256007.3
p.H80L
c.239A>T
1 paper
NM_001256007.3
p.C100*
c.300T>A
1 paper
NM_001256007.3
p.S140L
c.419C>T
5 papers
NM_001256007.3
p.S140*
c.419C>A
1 paper
NM_001256007.3
p.W144insFs
c.432dupG
1 paper
NM_001256007.3
p.K146_Q147insFs
c.438_439ins10
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