P2RX7
purinergic receptor P2X 7
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 formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750693211 | 12:121,570,778 | C/T | — | uncertain significance |
| rs1872753646 | 12:121,570,845 | G/T | — | uncertain significance |
| rs35933842 | 12:121,570,899 | G/T | splice region variant | likely benign |
| rs591874 | 12:121,571,465 | C/A | intron variant | — |
| rs656612 | 12:121,576,652 | C/A | intron variant | — |
| rs768107697 | 12:121,592,607 | A/C | — | uncertain significance |
| rs776199891 | 12:121,592,609 | G/T | — | uncertain significance |
| rs766851766 | 12:121,592,613 | T/C | — | uncertain significance |
| rs139154098 | 12:121,592,619 | C/T | — | uncertain significance |
| rs145127272 | 12:121,592,687 | C/T | — | likely benign |
| rs138943772 | 12:121,592,688 | G/A | — | uncertain significance |
| rs112275589 | 12:121,592,696 | T/C | — | benign |
| rs202077960 | 12:121,592,718 | A/G | — | uncertain significance |
| rs139064140 | 12:121,592,743 | C/T | — | uncertain significance |
| rs1878525339 | 12:121,593,930 | G/A | — | uncertain significance |
| rs28360445 | 12:121,593,936 | C/T | — | likely benign |
| rs208290 | 12:121,594,056 | G/A | intron variant | — |
| rs199972027 | 12:121,598,701 | G/A | — | likely benign |
| rs201778812 | 12:121,600,219 | C/T | — | benign |
| rs28360447 | 12:121,600,238 | G/A | missense variant | — |
| rs2500716859 | 12:121,600,245 | G/A | — | uncertain significance |
| rs208294 | 12:121,600,253 | T/G | missense variant | — |
| rs1879940389 | 12:121,600,280 | G/T | — | uncertain significance |
| rs377049533 | 12:121,600,301 | G/A | — | uncertain significance |
| rs201604423 | 12:121,603,160 | G/A | — | likely benign |
| rs2500771085 | 12:121,603,179 | G/A | — | uncertain significance |
| rs200294314 | 12:121,603,224 | G/A | — | uncertain significance |
| rs140915863 | 12:121,603,240 | C/T | missense variant | — |
| rs146402035 | 12:121,603,916 | C/G | — | uncertain significance |
| rs769105717 | 12:121,603,917 | C/T | — | uncertain significance |
| rs200108827 | 12:121,603,953 | G/A | — | likely benign |
| rs76190743 | 12:121,604,252 | A/G | intron variant | — |
| rs208311 | 12:121,604,314 | A/G | intron variant | — |
| rs924125105 | 12:121,605,334 | A/C | — | uncertain significance |
| rs778980769 | 12:121,605,340 | G/C | — | uncertain significance |
| rs16950860 | 12:121,605,354 | C/T | — | benign |
| rs7958311 | 12:121,605,355 | G/C | missense variant | — |
| rs1363170617 | 12:121,605,391 | C/T | — | uncertain significance |
| rs2500802960 | 12:121,605,394 | C/T | — | uncertain significance |
| rs146725537 | 12:121,605,408 | T/C | — | likely benign |
| rs202075483 | 12:121,605,414 | G/C | — | uncertain significance |
| rs28360457 | 12:121,613,229 | G/A | missense variant | benign |
| rs73403850 | 12:121,613,268 | T/C | — | benign |
| rs1718119 | 12:121,615,103 | G/T | missense variant | — |
| rs2230911 | 12:121,615,131 | C/G | missense variant | — |
| rs201921967 | 12:121,615,143 | A/G | missense variant | — |
| rs201966161 | 12:121,615,223 | T/G | — | uncertain significance |
| rs2500925414 | 12:121,615,246 | G/T | — | uncertain significance |
| rs1626329 | 12:121,622,023 | C/T | upstream gene variant | — |
| rs745746716 | 12:121,622,165 | C/T | — | uncertain significance |
| rs2230912 | 12:121,622,196 | A/G | missense variant | — |
| rs201763761 | 12:121,622,214 | C/T | — | likely benign |
| rs3751143 | 12:121,622,304 | A/C | missense variant | — |
| rs201043741 | 12:121,622,315 | C/T | — | uncertain significance |
| rs34219304 | 12:121,622,381 | G/A | — | benign |
| rs147038409 | 12:121,622,410 | G/T | — | uncertain significance |
| rs2501158594 | 12:121,622,430 | T/C | — | likely benign |
| rs149170639 | 12:121,622,447 | C/T | — | uncertain significance |
| rs369603693 | 12:121,622,454 | G/A | — | uncertain significance |
| rs537849901 | 12:121,622,486 | C/A | — | uncertain significance |
| rs1157374706 | 12:121,622,504 | A/G | — | uncertain significance |
| rs201354934 | 12:121,622,532 | G/C | — | uncertain significance |
| rs28360460 | 12:121,622,550 | G/A | — | likely benign |
| rs1621388 | 12:121,622,563 | G/T | synonymous variant | — |
| rs1653625 | 12:121,622,885 | C/A | — | — |
| rs1718106 | 12:121,622,886 | C/G | — | — |
| rs12301635 | 12:121,624,108 | C/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.