Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.R16H

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.R16H
c.47G>A
Surrounding Variants
1 paper
NM_170682.4
p.R16P
c.47G>C
1 paper
NM_170682.4
p.R15R
c.45G>A
1 paper
NM_170682.4
p.R15R
c.45G>C
1 paper
NM_170682.4
p.R15Q
c.44G>A
1 paper
NM_170682.4
p.A14A
c.42C>T
4 papers
NM_170682.4
p.A18S
c.52G>T
1 paper
NM_170682.4
p.A14V
c.41C>T
1 paper
NM_170682.4
p.A14T
c.40G>A
1 paper
NM_170682.4
p.A14S
c.40G>T
1 paper
NM_170682.4
p.R19G
c.55C>G
1 paper
NM_170682.4
p.R19Q
c.56G>A
1 paper
NM_170682.4
p.G20S
c.58G>A
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