Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B2

PAFAH1B2

22 papers

RefSeq Summary

Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and...

Pfam Domains

Lipase_GDSL_2aa 44–204UCSCGDSL-like Lipase/Acylhydrolase family

Gene Aliases

HGNC Name

platelet activating factor acetylhydrolase 1b catalytic subunit 2

HGNC Previous Names

platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa; platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa); platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)

Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
3 papers
NM_002572.4
p.A132G
c.395C>G
1 paper
NM_002572.4
p.S2G
c.4A>G
1 paper
NM_002572.4
p.G4*
c.10G>T
1 paper
NM_002572.4
p.Q27_H28Splc
c.82-2596T>C
1 paper
NM_002572.4
p.F31S
c.92T>C
1 paper
NM_002572.4
p.V45M
c.133G>A
1 paper
NM_002572.4
p.Q54_Q55insFs
c.162_163insA
1 paper
NM_002572.4
p.E57_I58Splc
c.171+418G>C
1 paper
NM_002572.4
p.R60Q
c.179G>A
1 paper
NM_002572.4
p.K86N
c.258G>C
1 paper
NM_002572.4
p.K86N
c.258G>T
1 paper
NM_002572.4
p.N92Y
c.274A>T
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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."