Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.D352A

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.D352A
c.1055A>C
Surrounding Variants
3 papers
NM_002562.6
p.D352N
c.1054G>A
1 paper
NM_002562.6
p.F353L
c.1057T>C
1 paper
NM_002562.6
p.F353L
c.1059C>A
1 paper
NM_002562.6
p.F353L
c.1059C>G
1 paper
NM_002562.6
p.L354I
c.1060C>A
2 papers
NM_002562.6
p.F350C
c.1049T>G
1 paper
NM_002562.6
p.D356N
c.1066G>A
1 paper
NM_002562.6
p.A348G
c.1043C>G
1 paper
NM_002562.6
p.D356D
c.1068C>T
65 papers
NM_002562.6
p.A348T
c.1042G>A
55 papers
NM_002562.6
p.T357S
c.1069A>T
55 papers
NM_002562.6
p.T357S
c.1070C>G
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