Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.V61L

P2RX7

488 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 and is responsible for ATP-dependent lysis of macrophages through the for...

Pfam Domains

P2X_receptoraa 11–390UCSCATP P2X receptor
P2RX7_Caa 400–592UCSCP2X purinoreceptor 7 intracellular domain

Gene Aliases

HGNC Name

purinergic receptor P2X 7

HGNC Alias Symbols

P2X7; MGC20089

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002562.6
p.V61L
c.181G>T
Surrounding Variants
1 paper
NM_002562.6
p.V61L
c.181G>C
1 paper
NM_002562.6
p.S60C
c.179C>G
1 paper
NM_002562.6
p.S60A
c.178T>G
2 papers
NM_002562.6
p.E70A
c.209A>C
2 papers
NM_002562.6
p.Y51F
c.152A>T
1 paper
NM_002562.6
p.K49R
c.146A>G
1 paper
NM_002562.6
p.E73del1
c.217_218delGAG
1 paper
NM_002562.6
p.E73A
c.218A>C
2 papers
NM_002562.6
p.D48E
c.144C>A
1 paper
NM_002562.6
p.D48E
c.144C>G
1 paper
NM_002562.6
p.D48A
c.143A>C
2 papers
NM_002562.6
p.E74V
c.221A>T
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