Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.E75A

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.E75A
c.224A>C
Surrounding Variants
1 paper
NM_170682.4
p.E75K
c.223G>A
1 paper
NM_170682.4
p.S76S
c.228C>T
2 papers
NM_170682.4
p.E71K
c.211G>A
1 paper
NM_170682.4
p.E69K
c.205G>A
1 paper
NM_170682.4
p.V82I
c.244G>A
1 paper
NM_170682.4
p.K83R
c.248A>G
1 paper
NM_170682.4
p.G84R
c.250G>A
1 paper
NM_170682.4
p.G84R
c.250G>C
1 paper
NM_170682.4
p.S66N
c.197G>A
1 paper
NM_170682.4
p.G84E
c.251G>A
1 paper
NM_170682.4
p.S66C
c.196A>T
1 paper
NM_170682.4
p.T86S
c.257C>G
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