Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH2
Variant:p.S83C

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.S83C
c.248C>G
Surrounding Variants
4 papers
NM_000437.4
p.R85C
c.253C>T
1 paper
NM_000437.4
p.A80A
c.240G>A
1 paper
NM_000437.4
p.R71C
c.211C>T
1 paper
NM_000437.4
p.E64K
c.190G>A
1 paper
NM_000437.4
p.C40Y
c.119G>A
1 paper
NM_000437.4
p.G2E
c.5G>A
1 paper
NM_000437.4
p.S118L
c.353C>T
1 paper
NM_000437.4
p.A125fs
c.373_374fs
1 paper
NM_000437.4
p.A125delFs
c.375delG
1 paper
NM_000437.4
p.V133L
c.397G>T
1 paper
NM_000437.4
p.V133L
c.397G>C
1 paper
NM_000437.4
p.H136N
c.406C>A
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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."