Varaico: Literature-Extracted Genetic Variants

Gene:P2RX4

P2RX4

241 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 with high calcium permeability. The main pharmacological distinction betw...

Pfam Domains

P2X_receptoraa 13–374UCSCATP P2X receptor

Gene Aliases

HGNC Name

purinergic receptor P2X 4

HGNC Alias Symbol

P2X4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 272 variants
10 papers
NM_002560.3
p.Y315C
c.944A>G
8 papers
NM_002560.3
p.G316S
c.946G>A
6 papers
NM_002560.3
p.S242G
c.724A>G
6 papers
NM_002560.3
p.D280A
c.839A>C
5 papers
NM_002560.3
p.V47A
c.140T>C
5 papers
NM_002560.3
p.V49A
c.146T>C
5 papers
NM_002560.3
p.E51A
c.152A>C
5 papers
NM_002560.3
p.A163A
c.489C>T
5 papers
NM_002560.3
p.D331A
c.992A>C
4 papers
NM_002560.3
p.Y42*
c.126C>A
4 papers
NM_002560.3
p.F48C
c.143T>G
4 papers
NM_002560.3
p.E56A
c.167A>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."