Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.V43A

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
2 papers
NM_170682.4
p.V43A
c.128T>C
Surrounding Variants
1 paper
NM_170682.4
p.V43V
c.129C>T
1 paper
NM_170682.4
p.L44M
c.130C>A
1 paper
NM_170682.4
p.L44V
c.130C>G
1 paper
NM_170682.4
p.G42E
c.125G>A
1 paper
NM_170682.4
p.G42A
c.125G>C
1 paper
NM_170682.4
p.L41L
c.123G>C
1 paper
NM_170682.4
p.Y45N
c.133T>A
1 paper
NM_170682.4
p.Y45Y
c.135C>T
1 paper
NM_170682.4
p.L41fs
c.121_122fs
1 paper
NM_170682.4
p.R46C
c.136C>T
2 papers
NM_170682.4
p.R46H
c.137G>A
1 paper
NM_170682.4
p.L41insFs
c.121dupC
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