Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.S388P

P2RX2

235 papers

RefSeq Summary

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from n...

Pfam Domains

P2X_receptoraa 26–335UCSCATP P2X receptor

Gene Aliases

HGNC Name

purinergic receptor P2X 2

HGNC Previous Symbol

DFNA41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_170682.4
p.S388P
c.1162T>C
Surrounding Variants
1 paper
NM_170682.4
p.S388L
c.1163C>T
1 paper
NM_170682.4
p.P387L
c.1160C>T
1 paper
NM_170682.4
p.S390G
c.1168A>G
1 paper
NM_170682.4
p.P384L
c.1151C>T
1 paper
NM_170682.4
p.P392S
c.1174C>T
1 paper
NM_170682.4
p.T383M
c.1148C>T
1 paper
NM_170682.4
p.C382R
c.1144T>C
1 paper
NM_170682.4
p.A396T
c.1186G>A
1 paper
NM_170682.4
p.D379G
c.1136A>G
1 paper
NM_170682.4
p.R397C
c.1189C>T
1 paper
NM_170682.4
p.D379N
c.1135G>A
1 paper
NM_170682.4
p.R397H
c.1190G>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."