Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.K369Q

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
4 papers
NM_170682.4
p.K369Q
c.1105A>C
Surrounding Variants
1 paper
NM_170682.4
p.K369_N370insGT
c.1105_1109ins6
1 paper
NM_170682.4
p.K369R
c.1106A>G
1 paper
NM_012226.5
p.K297insFs
c.889dupA
1 paper
NM_170682.4
p.K369N
c.1107A>C
1 paper
NM_170682.4
p.K369N
c.1107A>T
1 paper
NM_170682.4
p.N370_K371ins5
c.1108_1112ins15
1 paper
NM_012226.5
p.N298fs
c.892_893fs
1 paper
NM_170682.4
p.M367I
c.1101G>A
1 paper
NM_170682.4
p.M367I
c.1101G>C
1 paper
NM_170682.4
p.M367I
c.1101G>T
1 paper
NM_170682.4
p.K371Q
c.1111A>C
1 paper
NM_170682.4
p.K371N
c.1113G>C
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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."