Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.S297L

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.S297L
c.890C>T
Surrounding Variants
1 paper
NM_170682.4
p.S296L
c.887C>T
1 paper
NM_170682.4
p.S296A
c.886T>G
1 paper
NM_170682.4
p.Y299H
c.895T>C
1 paper
NM_170682.4
p.Y299C
c.896A>G
1 paper
NM_170682.4
p.Y299F
c.896A>T
1 paper
NM_170682.4
p.N300T
c.899A>C
2 papers
NM_170682.4
p.N300S
c.899A>G
1 paper
NM_170682.4
p.F301Y
c.902T>A
1 paper
NM_170682.4
p.R302T
c.905G>C
1 paper
NM_170682.4
p.K291*
c.871A>T
1 paper
NM_170682.4
p.P290A
c.868C>G
1 paper
NM_170682.4
p.D289G
c.866A>G
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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."