Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2

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
1–12 of 382 variants
25 papers
NM_170682.4
p.V60L
c.178G>T
24 papers
NM_170682.4
p.V60L
c.178G>C
17 papers
NM_170682.4
p.G353R
c.1057G>C
16 papers
NM_170682.4
p.G353R
c.1057G>A
7 papers
NM_170682.4
p.A348T
c.1042G>A
6 papers
NM_170682.4
p.R113R
c.337A>C
6 papers
NM_170682.4
p.D273Y
c.817G>T
4 papers
NM_170682.4
p.A18S
c.52G>T
4 papers
NM_170682.4
p.Y163Y
c.489C>T
4 papers
NM_170682.4
p.A248A
c.744T>C
4 papers
NM_170682.4
p.K308R
c.923A>G
4 papers
NM_170682.4
p.K369Q
c.1105A>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."