Varaico: Literature-Extracted Genetic Variants

Gene:P2RX5

P2RX5

208 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. Alternative splicing results in multiple transcript variants. Read-throu...

Gene Aliases

HGNC Name

purinergic receptor P2X 5

HGNC Alias Symbols

P2X5; LRH-1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 114 variants
8 papers
NM_002561.4
p.L32Q
c.95T>A
5 papers
NM_002561.4
p.P111fs
c.331_332fs
5 papers
NM_002561.4
p.G150R
c.448G>C
4 papers
NM_002561.4
p.P111delFs
c.333delG
4 papers
NM_002561.4
p.L158L
c.474G>A
3 papers
NM_002561.4
p.S79L
c.236C>T
2 papers
NM_002561.4
p.F49Y
c.146T>A
2 papers
NM_002561.4
p.T76N
c.227C>A
2 papers
NM_002561.4
p.V109M
c.325G>A
2 papers
NM_002561.4
p.S133N
c.398G>A
2 papers
NM_002561.4
p.V141I
c.421G>A
2 papers
NM_002561.4
p.E186K
c.556G>A
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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."