Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.Q460R

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
66 papers
NM_002562.6
p.Q460R
c.1379A>G
Surrounding Variants
1 paper
NM_002562.6
p.Q460*
c.1378C>T
1 paper
NM_002562.6
p.E465*
c.1393G>T
1 paper
NM_002562.6
p.Q455*
c.1363C>T
19 papers
NM_002562.6
p.R469G
c.1405A>G
21 papers
NM_002562.6
p.P451L
c.1352C>T
1 paper
NM_002562.6
p.P450P
c.1350C>G
3 papers
NM_002562.6
p.P474P
c.1422C>T
1 paper
NM_002562.6
p.V475F
c.1423G>T
1 paper
NM_002562.6
p.A445_D448del4
c.1333_1343del12
1 paper
NM_002562.6
p.Q478E
c.1432C>G
1 paper
NM_002562.6
p.L439fs
c.1315_1316fs
1 paper
NM_002562.6
p.T437T
c.1311A>G
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."