Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B3
Variant:p.I185S

PAFAH1B3

19 papers

RefSeq Summary

This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating ...

Pfam Domains

Lipase_GDSL_2aa 43–202UCSCGDSL-like Lipase/Acylhydrolase family

Gene Aliases

HGNC Name

platelet activating factor acetylhydrolase 1b catalytic subunit 3

HGNC Previous Names

platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD); platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa; platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa); platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002573.4
p.I185S
c.554T>G
Surrounding Variants
1 paper
NM_002573.4
p.S181L
c.542C>T
1 paper
NM_002573.4
p.Y191H
c.571T>C
1 paper
NM_002573.4
p.V179insFs
c.535_536insA
1 paper
NM_002573.4
p.H195N
c.583C>A
1 paper
NM_002573.4
p.A174V
c.521C>T
2 papers
NM_002573.4
p.R198H
c.593G>A
1 paper
NM_002573.4
p.G200C
c.598G>T
1 paper
NM_002573.4
p.L163L
c.487C>T
1 paper
NM_002573.4
p.L136_G137Splc
c.408+3G>A
1 paper
NM_002573.4
p.R132Q
c.395G>A
1 paper
NM_002573.4
p.V124L
c.370G>T
1 paper
NM_002573.4
p.V124L
c.370G>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."