Varaico: Literature-Extracted Genetic Variants

Gene:P2RX4
Variant:p.F48C

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
4 papers
NM_002560.3
p.F48C
c.143T>G
Surrounding Variants
2 papers
NM_002560.3
p.V49L
c.145G>C
2 papers
NM_002560.3
p.V49L
c.145G>T
2 papers
NM_002560.3
p.V49E
c.146T>A
5 papers
NM_002560.3
p.V47A
c.140T>C
5 papers
NM_002560.3
p.V49A
c.146T>C
1 paper
NM_002560.3
p.V49G
c.146T>G
1 paper
NM_002560.3
p.V49V
c.147G>A
1 paper
NM_002560.3
p.W46C
c.138G>C
1 paper
NM_002560.3
p.W46C
c.138G>T
3 papers
NM_002560.3
p.W50C
c.150G>C
3 papers
NM_002560.3
p.W50C
c.150G>T
1 paper
NM_002560.3
p.G45G
c.135G>A
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