Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P2RX7

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

1–12 of 366 variants

107 papers

chr12:121184501 A>C

NM_002562.6

p.E496A

c.1487A>C

P2RX7_C

Exome: 18.5% (AC=270026, hom=26057)Genome: 15.8% (AC=24097, hom=2070)11 overlapping SVs

66 papers

chr12:121184393 A>G

NM_002562.6

p.Q460R

c.1379A>G

P2RX7_C

Exome: 15.6% (AC=227374, hom=18880)Genome: 11.8% (AC=17987, hom=1306)11 overlapping SVs

65 papers

chr12:121177300 G>A

NM_002562.6

p.A348T

c.1042G>A

P2X_receptor

Exome: 38.5% (AC=562475, hom=110888)Genome: 38.8% (AC=58916, hom=11881)11 overlapping SVs

55 papers

chr12:121177327 A>T

NM_002562.6

p.T357S

c.1069A>T

P2X_receptor

exact variant not in gnomAD11 overlapping SVs

55 papers

chr12:121177328 C>G

NM_002562.6

p.T357S

c.1070C>G

P2X_receptor

Exome: 9.4% (AC=137762, hom=8961)Genome: 12.3% (AC=18680, hom=1447)11 overlapping SVs

49 papers

chr12:121175426 G>A

NM_002562.6

p.R307Q

c.920G>A

P2X_receptor

Exome: 1.4% (AC=19936, hom=185)Genome: 1.0% (AC=1576, hom=12)10 overlapping SVs

42 papers

chr12:121184717 T>A

NM_002562.6

p.I568N

c.1703T>A

P2RX7_C

Exome: 2.2% (AC=31022, hom=400)Genome: 1.5% (AC=2289, hom=24)11 overlapping SVs

35 papers

chr12:121167552 G>A

NM_002562.6

p.R270H

c.809G>A

P2X_receptor

Exome: 24.7% (AC=360703, hom=46181)Genome: 25.7% (AC=39047, hom=5164)10 overlapping SVs

29 papers

chr12:121162435 G>A

NM_002562.6

p.G150R

c.448G>A

P2X_receptor

Exome: 1.6% (AC=24093, hom=259)Genome: 1.2% (AC=1813, hom=15)11 overlapping SVs

29 papers

chr12:121162435 G>C

NM_002562.6

p.G150R

c.448G>C

P2X_receptor

exact variant not in gnomAD11 overlapping SVs

27 papers

chr12:121154886 T>C

NM_002562.6

p.V76A

c.227T>C

P2X_receptor

Exome: 7.1% (AC=103505, hom=4040)Genome: 5.3% (AC=8089, hom=260)13 overlapping SVs

26 papers

chr12:121177354 C>G

NM_002562.6

p.H366D

c.1096C>G

P2X_receptor

exact variant not in gnomAD10 overlapping SVs

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."