Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA8
Variant:p.Q280_V281delins

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.Q280_V281delins
c.840_841delinsTT
Surrounding Variants
1 paper
NM_001256007.3
p.S286N
c.857G>A
1 paper
NM_001256007.3
p.S271insFs
c.811_812insA
1 paper
NM_001256007.3
p.S271fs
c.811_812fs
1 paper
NM_001256007.3
p.L291insFs
c.871_872insT
1 paper
NM_001256007.3
p.L291fs
c.871_872fs
1 paper
NM_001256007.3
p.T270A
c.808A>G
1 paper
NM_001256007.3
p.E296fs
c.886_887fs
2 papers
NM_001256007.3
p.E296delFs
c.886delC
1 paper
NM_001256007.3
p.T265M
c.794C>T
2 papers
NM_001256007.3
p.T265insFs
c.793dupA
1 paper
NM_001256007.3
p.T265fs
c.793_794fs
1 paper
NM_001256007.3
p.A255delFs
c.763delC
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