Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.C373S

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.C373S
c.1118G>C
Surrounding Variants
1 paper
NM_002562.6
p.C373S
c.1117T>A
1 paper
NM_002562.6
p.C374S
c.1120T>A
1 paper
NM_002562.6
p.C374S
c.1121G>C
1 paper
NM_002562.6
p.C371*
c.1113C>A
1 paper
NM_002562.6
p.Q375*
c.1123C>T
1 paper
NM_002562.6
p.C377S
c.1129T>A
1 paper
NM_002562.6
p.C377S
c.1130G>C
3 papers
NM_002562.6
p.P369S
c.1105C>T
1 paper
NM_002562.6
p.H366N
c.1096C>A
26 papers
NM_002562.6
p.H366D
c.1096C>G
1 paper
NM_002562.6
p.N380N
c.1140C>T
1 paper
NM_002562.6
p.Y382F
c.1145A>T
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