Varaico: Literature-Extracted Genetic Variants

Gene:P2RX3
Variant:p.V18L

P2RX3

201 papers

RefSeq Summary

This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion ...

Pfam Domains

P2X_receptoraa 8–360UCSCATP P2X receptor

Gene Aliases

HGNC Name

purinergic receptor P2X 3

HGNC Alias Symbol

P2X3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_002559.5
p.V18L
c.52G>T
Surrounding Variants
1 paper
NM_002559.5
p.S15S
c.45G>A
1 paper
NM_002559.5
p.S15S
c.45G>C
1 paper
NM_002559.5
p.K14T
c.41A>C
5 papers
NM_002559.5
p.T13P
c.37A>C
1 paper
NM_002559.5
p.T12P
c.34A>C
1 paper
NM_002559.5
p.G24R
c.70G>A
1 paper
NM_002559.5
p.G24R
c.70G>C
1 paper
NM_002559.5
p.G24insFs
c.70_71insC
1 paper
NM_002559.5
p.Y10N
c.28T>A
1 paper
NM_002559.5
p.Q31Q
c.93G>A
1 paper
NM_002559.5
p.N2K
c.6C>A
1 paper
NM_002559.5
p.N2K
c.6C>G
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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."