Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.T508A

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.T508A
c.1522A>G
Surrounding Variants
1 paper
NM_002562.6
p.A505T
c.1513G>A
1 paper
NM_002562.6
p.K501R
c.1502A>G
1 paper
NM_002562.6
p.K515Q
c.1543A>C
107 papers
NM_002562.6
p.E496A
c.1487A>C
7 papers
NM_002562.6
p.H521Q
c.1563C>A
7 papers
NM_002562.6
p.H521Q
c.1563C>G
1 paper
NM_002562.6
p.V522I
c.1564G>A
1 paper
NM_002562.6
p.R492K
c.1475G>A
2 papers
NM_002562.6
p.E489*
c.1465G>T
1 paper
NM_002562.6
p.Q486K
c.1456C>A
1 paper
NM_002562.6
p.Q486*
c.1456C>T
1 paper
NM_002562.6
p.E531*
c.1591G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."