Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA8
Variant:p.H625R

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
5 papers
NM_001256007.3
p.H625R
c.1874A>G
Surrounding Variants
1 paper
NM_001256007.3
p.D623E
c.1869T>G
1 paper
NM_001256007.3
p.D623E
c.1869T>A
2 papers
NM_001256007.3
p.G613A
c.1838G>C
1 paper
NM_001256007.3
p.Y593D
c.1777T>G
5 papers
NM_001256007.3
p.Y583delFs
c.1748_1749delAT
2 papers
NM_001256007.3
p.Y583fs
c.1747_1748fs
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.K561_V562Splc
c.1684-2A>G
1 paper
NM_001256007.3
p.R555G
c.1663A>G
2 papers
NM_001256007.3
p.M550I
c.1650G>T
2 papers
NM_001256007.3
p.M550I
c.1650G>C
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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."