Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.T227M

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.T227M
c.680C>T
Surrounding Variants
1 paper
NM_170682.4
p.F228Y
c.683T>A
1 paper
NM_170682.4
p.F228S
c.683T>C
1 paper
NM_170682.4
p.R225P
c.674G>C
1 paper
NM_170682.4
p.R225G
c.673C>G
1 paper
NM_170682.4
p.S232F
c.695C>T
1 paper
NM_170682.4
p.D233N
c.697G>A
1 paper
NM_170682.4
p.D233H
c.697G>C
1 paper
NM_170682.4
p.G221R
c.661G>A
1 paper
NM_170682.4
p.Y235C
c.704A>G
1 paper
NM_170682.4
p.R218R
c.654C>G
1 paper
NM_170682.4
p.C236G
c.706T>G
1 paper
NM_170682.4
p.R218L
c.653G>T
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."