Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA8
Variant:p.G546delFs

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
2 papers
NM_001256007.3
p.G546delFs
c.1637delC
Surrounding Variants
1 paper
NM_001256007.3
p.G546fs
c.1636_1637fs
1 paper
NM_001256007.3
p.M550delFs
c.1648delT
2 papers
NM_001256007.3
p.M550I
c.1650G>T
2 papers
NM_001256007.3
p.M550I
c.1650G>C
2 papers
NM_001256007.3
p.M550I
c.1650G>A
1 paper
NM_001256007.3
p.R555G
c.1663A>G
2 papers
NM_001256007.3
p.K561_V562Splc
c.1684-2A>G
2 papers
NM_001256007.3
p.V562L
c.1684G>T
1 paper
NM_001256007.3
p.V562L
c.1684G>C
2 papers
NM_001256007.3
p.Y583fs
c.1747_1748fs
5 papers
NM_001256007.3
p.Y583delFs
c.1748_1749delAT
1 paper
NM_001256007.3
p.Y593D
c.1777T>G
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