Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.L54L

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.L54L
c.162C>T
Surrounding Variants
1 paper
NM_170682.4
p.Y55C
c.164A>G
1 paper
NM_170682.4
p.Y55*
c.165C>A
1 paper
NM_170682.4
p.Y55Y
c.165C>T
1 paper
NM_170682.4
p.L53Q
c.158T>A
1 paper
NM_170682.4
p.F56F
c.168C>T
1 paper
NM_170682.4
p.W58R
c.172T>A
1 paper
NM_170682.4
p.Q49Q
c.147G>A
3 papers
NM_170682.4
p.V48A
c.143T>C
1 paper
NM_170682.4
p.V48M
c.142G>A
1 paper
NM_170682.4
p.V48L
c.142G>C
1 paper
NM_170682.4
p.V48L
c.142G>T
2 papers
NM_170682.4
p.R46H
c.137G>A
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."