Varaico: Literature-Extracted Genetic Variants

Gene:P2RX5
Variant:p.F49L

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
1 paper
NM_002561.4
p.F49L
c.147C>A
Surrounding Variants
2 papers
NM_002561.4
p.F49Y
c.146T>A
1 paper
NM_002561.4
p.V48A
c.143T>C
1 paper
NM_002561.4
p.Y55Y
c.165C>T
1 paper
NM_002561.4
p.Y55*
c.165C>A
1 paper
NM_002561.4
p.S64N
c.191G>A
1 paper
NM_002561.4
p.G72G
c.216C>T
1 paper
NM_002561.4
p.F75F
c.225C>T
1 paper
NM_002561.4
p.T76S
c.226A>T
1 paper
NM_002561.4
p.T76I
c.227C>T
1 paper
NM_002561.4
p.T76S
c.227C>G
2 papers
NM_002561.4
p.T76N
c.227C>A
3 papers
NM_002561.4
p.S79L
c.236C>T
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