Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA8
Variant:p.L291insFs

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.L291insFs
c.871_872insT
Surrounding Variants
1 paper
NM_001256007.3
p.L291fs
c.871_872fs
1 paper
NM_001256007.3
p.S286N
c.857G>A
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.Q280_V281delins
c.840_841delinsTT
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.T270A
c.808A>G
1 paper
NM_001256007.3
p.Y315*
c.945T>G
1 paper
NM_001256007.3
p.Y315*
c.945T>A
2 papers
NM_001256007.3
p.Y315delFs
c.944_945delAT
1 paper
NM_001256007.3
p.T265M
c.794C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."