Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH2
Variant:p.F146L

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.F146L
c.438C>G
Surrounding Variants
1 paper
NM_000437.4
p.F146L
c.438C>A
1 paper
NM_000437.4
p.F146L
c.436T>C
1 paper
NM_000437.4
p.P151P
c.453A>G
2 papers
NM_000437.4
p.A141V
c.422C>T
1 paper
NM_000437.4
p.R139Q
c.416G>A
1 paper
NM_000437.4
p.P167S
c.499C>T
1 paper
NM_000437.4
p.G174R
c.520G>C
1 paper
NM_000437.4
p.G174R
c.520G>A
1 paper
NM_000437.4
p.H179Y
c.535C>T
1 paper
NM_000437.4
p.Q184R
c.551A>G
1 paper
NM_000437.4
p.H136R
c.407A>G
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."