Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.K291*

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.K291*
c.871A>T
Surrounding Variants
1 paper
NM_170682.4
p.P290A
c.868C>G
1 paper
NM_170682.4
p.D289G
c.866A>G
1 paper
NM_170682.4
p.L288R
c.863T>G
1 paper
NM_170682.4
p.L288insFs
c.864dupT
2 papers
NM_170682.4
p.R286Q
c.857G>A
1 paper
NM_170682.4
p.R286W
c.856C>T
1 paper
NM_170682.4
p.S296A
c.886T>G
1 paper
NM_170682.4
p.S296L
c.887C>T
1 paper
NM_170682.4
p.S297L
c.890C>T
1 paper
NM_170682.4
p.S284A
c.850T>G
1 paper
NM_170682.4
p.Y299H
c.895T>C
1 paper
NM_170682.4
p.Y299C
c.896A>G
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