Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.K281R

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.K281R
c.842A>G
Surrounding Variants
2 papers
NM_002562.6
p.D280E
c.840C>A
2 papers
NM_002562.6
p.D280E
c.840C>G
5 papers
NM_002562.6
p.D280A
c.839A>C
1 paper
NM_002562.6
p.D280N
c.838G>A
14 papers
NM_002562.6
p.D279N
c.835G>A
1 paper
NM_002562.6
p.L278L
c.834T>C
2 papers
NM_002562.6
p.N284S
c.851A>G
8 papers
NM_002562.6
p.V285M
c.853G>A
1 paper
NM_002562.6
p.S286A
c.856T>G
1 paper
NM_002562.6
p.S286C
c.857C>G
1 paper
NM_002562.6
p.S286F
c.857C>T
21 papers
NM_002562.6
p.R276H
c.827G>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."