Varaico: Literature-Extracted Genetic Variants

Gene:PTAFR
Variant:p.N114S

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
13 papers
NM_000952.5
p.N114S
c.341A>G
Surrounding Variants
1 paper
NM_000952.5
p.R115C
c.343C>T
1 paper
NM_000952.5
p.T112A
c.334A>G
1 paper
NM_000952.5
p.V110L
c.328G>C
1 paper
NM_000952.5
p.G109S
c.325G>A
1 paper
NM_000952.5
p.T120S
c.358A>T
1 paper
NM_000952.5
p.T120S
c.359C>G
1 paper
NM_000952.5
p.S104A
c.310T>G
1 paper
NM_000952.5
p.T101A
c.301A>G
1 paper
NM_000952.5
p.R133C
c.397C>T
1 paper
NM_000952.5
p.V92_A93ins0
c.275_277dupTGG
1 paper
NM_000952.5
p.S136C
c.407C>G
1 paper
NM_000952.5
p.V92M
c.274G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."