Varaico: Literature-Extracted Genetic Variants

Gene:P2RX4
Variant:p.Y315C

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
Selected Variant
10 papers
NM_002560.3
p.Y315C
c.944A>G
Surrounding Variants
1 paper
NM_002560.3
p.Y315S
c.944A>C
8 papers
NM_002560.3
p.G316S
c.946G>A
1 paper
NM_002560.3
p.G316A
c.947G>C
1 paper
NM_002560.3
p.K313T
c.938A>C
3 papers
NM_002560.3
p.K313R
c.938A>G
1 paper
NM_002560.3
p.I312T
c.935T>C
1 paper
NM_002560.3
p.I312L
c.934A>C
1 paper
NM_002560.3
p.I312V
c.934A>G
1 paper
NM_002560.3
p.I312F
c.934A>T
1 paper
NM_002560.3
p.D320A
c.959A>C
1 paper
NM_002560.3
p.R309C
c.925C>T
1 paper
NM_002560.3
p.V323A
c.968T>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."