PINX1
PIN2 (TERF1) interacting telomerase inhibitor 1
Summary
Enables telomerase RNA binding activity and telomerase inhibitor activity. Involved in several processes, including negative regulation of macromolecule metabolic process; positive regulation of protein localization to nucleolus; and protein localization to organelle. Acts upstream of or within telomere maintenance via telomerase. Located in several cellular components, including chromosomal region; nuclear lumen; and spindle. Implicated in hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1451478768 | 8:10,622,925 | T/C | — | uncertain significance |
| rs202072777 | 8:10,622,935 | C/G | — | uncertain significance |
| rs761990848 | 8:10,622,987 | T/G | — | uncertain significance |
| rs773137740 | 8:10,623,008 | C/G | — | uncertain significance |
| rs563513269 | 8:10,623,031 | G/T | — | uncertain significance |
| rs1396718293 | 8:10,623,042 | C/T | — | uncertain significance |
| rs368843905 | 8:10,623,050 | G/A | — | uncertain significance |
| rs542506077 | 8:10,623,083 | G/A | — | likely benign |
| rs1801009702 | 8:10,623,129 | C/G | — | uncertain significance |
| rs1410722440 | 8:10,623,131 | G/A | — | uncertain significance |
| rs377260866 | 8:10,623,134 | G/A | — | uncertain significance |
| rs202202690 | 8:10,623,135 | C/T | — | uncertain significance |
| rs530442735 | 8:10,623,136 | G/T | — | likely benign |
| rs1186561268 | 8:10,623,165 | C/A | — | uncertain significance |
| rs112721304 | 8:10,623,168 | C/T | — | likely benign |
| rs1801012960 | 8:10,623,187 | C/G | — | uncertain significance |
| rs1563197319 | 8:10,623,188 | T/C | — | uncertain significance |
| rs777734230 | 8:10,623,191 | G/A | — | likely benign |
| rs771844933 | 8:10,623,193 | G/C | — | uncertain significance |
| rs773716802 | 8:10,623,210 | G/T | — | uncertain significance |
| rs17152322 | 8:10,623,214 | G/C | — | benign |
| rs1297366723 | 8:10,623,230 | T/A | — | uncertain significance |
| rs752110709 | 8:10,623,299 | G/C | — | uncertain significance |
| rs200391896 | 8:10,623,309 | C/A | — | uncertain significance |
| rs376955060 | 8:10,623,335 | G/A | — | uncertain significance |
| rs754026759 | 8:10,623,381 | T/C | — | uncertain significance |
| rs564906617 | 8:10,623,483 | G/T | — | — |
| rs11250072 | 8:10,632,121 | C/T | downstream gene variant | — |
| rs11250073 | 8:10,632,236 | G/A | — | — |
| rs28564979 | 8:10,633,960 | C/T | — | — |
| rs7814142 | 8:10,637,552 | G/A | upstream gene variant | — |
| rs13272296 | 8:10,639,942 | T/C | — | — |
| rs1821002 | 8:10,640,065 | C/A | — | — |
| rs10095737 | 8:10,641,152 | G/A | regulatory region variant | — |
| rs11998606 | 8:10,663,120 | C/G | — | — |
| rs78771333 | 8:10,663,160 | C/G | — | — |
| rs2898245 | 8:10,666,174 | G/A | intron variant | — |
| rs6601530 | 8:10,671,272 | G/A | regulatory region variant | — |
| rs34653170 | 8:10,676,542 | G/A | — | — |
| rs754537480 | 8:10,677,705 | C/G | — | uncertain significance |
| rs1797824581 | 8:10,677,711 | T/C | — | uncertain significance |
| rs373787798 | 8:10,677,722 | T/C | — | uncertain significance |
| rs7840785 | 8:10,683,127 | C/G | — | — |
| rs2535995663 | 8:10,683,667 | G/A | — | uncertain significance |
| rs938717264 | 8:10,683,745 | T/C | — | uncertain significance |
| rs375916595 | 8:10,683,748 | G/A | — | uncertain significance |
| rs11776767 | 8:10,683,929 | G/A | — | — |
| rs6991526 | 8:10,689,050 | T/C | intron variant | — |
| rs1312291933 | 8:10,689,177 | G/A | — | uncertain significance |
| rs201784803 | 8:10,689,208 | C/T | — | uncertain significance |
| rs373331383 | 8:10,690,409 | T/C | — | uncertain significance |
| rs377715499 | 8:10,690,422 | C/T | — | uncertain significance |
| rs555750544 | 8:10,690,433 | T/A | — | uncertain significance |
| rs756445721 | 8:10,690,447 | T/A | — | uncertain significance |
| rs1242341959 | 8:10,690,472 | C/T | — | uncertain significance |
| rs760082322 | 8:10,692,178 | T/C | — | uncertain significance |
| rs4840519 | 8:10,693,113 | T/A | — | — |
| rs35091929 | 8:10,693,492 | T/A | — | — |
| rs76785757 | 8:10,693,690 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.