Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.F303I

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.F303I
c.907T>A
Surrounding Variants
2 papers
NM_170682.4
p.F303L
c.907T>C
1 paper
NM_170682.4
p.F303Y
c.908T>A
1 paper
NM_170682.4
p.R302Splc
c.906-1G>A
2 papers
NM_170682.4
p.F303L
c.909T>A
2 papers
NM_170682.4
p.F303L
c.909T>G
1 paper
NM_170682.4
p.A304V
c.911C>T
1 paper
NM_170682.4
p.K305Q
c.913A>C
1 paper
NM_170682.4
p.K305E
c.913A>G
1 paper
NM_170682.4
p.K305*
c.913A>T
1 paper
NM_170682.4
p.Y306N
c.916T>A
1 paper
NM_170682.4
p.Y306C
c.917A>G
1 paper
NM_170682.4
p.K308E
c.922A>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."