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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P2RX7

Variant:p.D89A

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr12:121154925 A>C

NM_002562.6

p.D89A

c.266A>C

P2X_receptor

exact variant not in gnomAD13 overlapping SVs

Surrounding Variants

1 paper

chr12:121154926 C>A

NM_002562.6

p.D89E

c.267C>A

P2X_receptor

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=3, hom=0)13 overlapping SVs

1 paper

chr12:121154927 A>G

NM_002562.6

p.T90A

c.268A>G

P2X_receptor

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr12:121154927 A>T

NM_002562.6

p.T90S

c.268A>T

P2X_receptor

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:121154928 C>G

NM_002562.6

p.T90S

c.269C>G

P2X_receptor

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:121154928 C>T

NM_002562.6

p.T90I

c.269C>T

P2X_receptor

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:121154922 T>C

NM_002562.6

p.F88S

c.263T>C

P2X_receptor

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:121154929 C>A

NM_002562.6

p.T90T

c.270C>A

P2X_receptor

Exome: n/aGenome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr12:121154929 C>T

NM_002562.6

p.T90T

c.270C>T

P2X_receptor

Exome: 0.0% (AC=39, hom=0)Genome: 0.0% (AC=3, hom=0)13 overlapping SVs

1 paper

chr12:121154920 C>A

NM_002562.6

p.V87V

c.261C>A

P2X_receptor

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:121154920 C>T

NM_002562.6

p.V87V

c.261C>T

P2X_receptor

Exome: n/aGenome: 0.0% (AC=0, hom=0)13 overlapping SVs

1 paper

chr12:121154918 G>A

NM_002562.6

p.V87I

c.259G>A

P2X_receptor

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr12:121154917 T>A

NM_002562.6

p.S86R

c.258T>A

P2X_receptor

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

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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."