Varaico: Literature-Extracted Genetic Variants

Gene:PTAFR
Variant:p.S194G

PTAFR

93 papers

RefSeq Summary

This gene encodes a seven-transmembrane G-protein-coupled receptor for platelet-activating factor (PAF) that localizes to lipid rafts and/or caveolae in the cell membrane. PAF (1-0-alkyl-2-acetyl-sn-g...

Pfam Domains

7tm_1aa 32–293UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

platelet activating factor receptor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000952.5
p.S194G
c.580A>G
Surrounding Variants
2 papers
NM_000952.5
p.L197M
c.589C>A
1 paper
NM_000952.5
p.E178K
c.532G>A
1 paper
NM_000952.5
p.R211C
c.631C>T
1 paper
NM_000952.5
p.P217P
c.651G>A
1 paper
NM_000952.5
p.N169D
c.505A>G
1 paper
NM_000952.5
p.A224T
c.670G>A
12 papers
NM_000952.5
p.A224D
c.671C>A
2 papers
NM_000952.5
p.R228H
c.683G>A
1 paper
NM_000952.5
p.A230insFs
c.688dupG
4 papers
NM_000952.5
p.A230E
c.689C>A
1 paper
NM_000952.5
p.A230fs
c.688_689fs
1 paper
NM_000952.5
p.L231R
c.692T>G
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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."