Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.V92M

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.V92M
c.274G>A
Surrounding Variants
1 paper
NM_170682.4
p.H90Q
c.270C>A
1 paper
NM_170682.4
p.H90H
c.270C>T
1 paper
NM_170682.4
p.E96A
c.287A>C
1 paper
NM_170682.4
p.T87M
c.260C>T
1 paper
NM_170682.4
p.E96E
c.288G>A
2 papers
NM_170682.4
p.E96D
c.288G>C
1 paper
NM_170682.4
p.E97A
c.290A>C
1 paper
NM_170682.4
p.T86T
c.258C>A
1 paper
NM_170682.4
p.T86S
c.257C>G
1 paper
NM_170682.4
p.E97E
c.291G>A
1 paper
NM_170682.4
p.G84E
c.251G>A
1 paper
NM_170682.4
p.G84R
c.250G>A
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