Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B3

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
1–12 of 20 variants
2 papers
NM_002573.4
p.R198H
c.593G>A
1 paper
NM_002573.4
p.R29Q
c.86G>A
1 paper
NM_002573.4
p.D36D
c.108T>C
1 paper
NM_002573.4
p.Q54_C55insFs
c.162_163insA
1 paper
NM_002573.4
p.G76S
c.226G>A
1 paper
NM_002573.4
p.N86D
c.256A>G
1 paper
NM_002573.4
p.E88G
c.263A>G
1 paper
NM_002573.4
p.V121A
c.362T>C
1 paper
NM_002573.4
p.V124L
c.370G>T
1 paper
NM_002573.4
p.V124L
c.370G>C
1 paper
NM_002573.4
p.R132Q
c.395G>A
1 paper
NM_002573.4
p.L136_G137Splc
c.408+3G>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."