Varaico: Literature-Extracted Genetic Variants

Gene:P2RX4
Variant:p.G53C

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
2 papers
NM_002560.3
p.G53C
c.157G>T
Surrounding Variants
3 papers
NM_002560.3
p.G53A
c.158G>C
2 papers
NM_002560.3
p.G53G
c.159C>A
1 paper
NM_002560.3
p.G53G
c.159C>T
1 paper
NM_002560.3
p.Y54S
c.161A>C
1 paper
NM_002560.3
p.Y54C
c.161A>G
2 papers
NM_002560.3
p.Y54F
c.161A>T
5 papers
NM_002560.3
p.E51A
c.152A>C
1 paper
NM_002560.3
p.Y54Y
c.162C>T
1 paper
NM_002560.3
p.Q55K
c.163C>A
1 paper
NM_002560.3
p.Q55E
c.163C>G
2 papers
NM_002560.3
p.E51Q
c.151G>C
1 paper
NM_002560.3
p.E51*
c.151G>T
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