Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.L274P

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.L274P
c.821T>C
Surrounding Variants
1 paper
NM_012226.5
p.D201N
c.601G>A
7 papers
NM_170682.4
p.D273Y
c.817G>T
NM_012226.5
p.D201Y
c.601G>T
1 paper
NM_170682.4
p.E278K
c.832G>A
1 paper
NM_170682.4
p.N267_W268insFs
c.801_802insA
1 paper
NM_170682.4
p.P281S
c.841C>T
1 paper
NM_170682.4
p.P281P
c.843C>G
1 paper
NM_170682.4
p.S284A
c.850T>G
1 paper
NM_170682.4
p.R286W
c.856C>T
2 papers
NM_170682.4
p.R286Q
c.857G>A
1 paper
NM_170682.4
p.I262V
c.784A>G
1 paper
NM_170682.4
p.V261D
c.782T>A
1 paper
NM_170682.4
p.L288insFs
c.864dupT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."