Varaico: Literature-Extracted Genetic Variants

Gene:P2RX5
Variant:p.P111delFs

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
Selected Variant
4 papers
NM_002561.4
p.P111delFs
c.333delG
Surrounding Variants
5 papers
NM_002561.4
p.P111fs
c.331_332fs
1 paper
NM_002561.4
p.N112fs
c.334_335fs
1 paper
NM_002561.4
p.T110delFs
c.328delT
1 paper
NM_002561.4
p.T110fs
c.328_329fs
1 paper
NM_002561.4
p.R114R
c.342G>A
1 paper
NM_002561.4
p.V109L
c.325G>C
2 papers
NM_002561.4
p.V109M
c.325G>A
1 paper
NM_002561.4
p.Q115Q
c.345G>A
1 paper
NM_002561.4
p.N116K
c.348C>A
1 paper
NM_002561.4
p.V117I
c.349G>A
1 paper
NM_002561.4
p.V104I
c.310G>A
1 paper
NM_002561.4
p.V103M
c.307G>A
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