Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.E531*

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.E531*
c.1591G>T
Surrounding Variants
1 paper
NM_002562.6
p.L534L
c.1602G>T
1 paper
NM_002562.6
p.A535V
c.1604C>T
1 paper
NM_002562.6
p.V522I
c.1564G>A
7 papers
NM_002562.6
p.H521Q
c.1563C>A
7 papers
NM_002562.6
p.H521Q
c.1563C>G
2 papers
NM_002562.6
p.T541I
c.1622C>T
2 papers
NM_002562.6
p.S543I
c.1628G>T
2 papers
NM_002562.6
p.R544Q
c.1631G>A
1 paper
NM_002562.6
p.K515Q
c.1543A>C
1 paper
NM_002562.6
p.C548G
c.1642T>G
2 papers
NM_002562.6
p.Y550F
c.1649A>T
2 papers
NM_002562.6
p.C552S
c.1654T>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."