Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.S416R

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.S416R
c.1246A>C
Surrounding Variants
1 paper
NM_170682.4
p.S416R
c.1248C>A
1 paper
NM_170682.4
p.S416R
c.1248C>G
1 paper
NM_170682.4
p.P418L
c.1253C>T
1 paper
NM_170682.4
p.Q413H
c.1239G>C
1 paper
NM_170682.4
p.Q413H
c.1239G>T
1 paper
NM_170682.4
p.G420S
c.1258G>A
1 paper
NM_170682.4
p.D412H
c.1234G>C
1 paper
NM_170682.4
p.E411K
c.1231G>A
1 paper
NM_170682.4
p.S410F
c.1229C>T
3 papers
NM_170682.4
p.R409H
c.1226G>A
1 paper
NM_170682.4
p.R409C
c.1225C>T
1 paper
NM_170682.4
p.Q424H
c.1272A>C
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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."