Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH2
Variant:p.L244V

PAFAH2

40 papers

RefSeq Summary

This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating...

Pfam Domains

PAF-AH_p_IIaa 1–381UCSCPlatelet-activating factor acetylhydrolase, isoform II

Gene Aliases

HGNC Name

platelet activating factor acetylhydrolase 2

HGNC Alias Symbol

HSD-PLA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000437.4
p.L244V
c.730C>G
Surrounding Variants
2 papers
NM_000437.4
p.H235Y
c.703C>T
1 paper
NM_000437.4
p.D226G
c.677A>G
1 paper
NM_000437.4
p.R267C
c.799C>T
1 paper
NM_000437.4
p.I328T
c.983T>C
1 paper
NM_000437.4
p.G345E
c.1034G>A
3 papers
NM_000437.4
p.L361V
c.1081C>G
1 paper
NM_000437.4
p.P213insFs
c.638dupC
1 paper
NM_000437.4
p.R188Q
c.563G>A
1 paper
NM_000437.4
p.R188W
c.562C>T
1 paper
NM_000437.4
p.Q184R
c.551A>G
1 paper
NM_000437.4
p.H179Y
c.535C>T
1 paper
NM_000437.4
p.G174R
c.520G>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."