Varaico: Literature-Extracted Genetic Variants

Gene:PTAFR
Variant:p.T69P

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.T69P
c.205A>C
Surrounding Variants
1 paper
NM_000952.5
p.T69A
c.205A>G
1 paper
NM_000952.5
p.P71A
c.211C>G
3 papers
NM_000952.5
p.D63A
c.188A>C
3 papers
NM_000952.5
p.D63N
c.187G>A
1 paper
NM_000952.5
p.T60I
c.179C>T
1 paper
NM_000952.5
p.T60N
c.179C>A
1 paper
NM_000952.5
p.T60A
c.178A>G
1 paper
NM_000952.5
p.K87T
c.260A>C
1 paper
NM_000952.5
p.F88Y
c.263T>A
1 paper
NM_000952.5
p.V92M
c.274G>A
1 paper
NM_000952.5
p.V92_A93ins0
c.275_277dupTGG
2 papers
NM_000952.5
p.R42L
c.125G>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."