TERC
telomerase RNA component
Summary
Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]
Known Variants265 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs35073794 | 3:169,482,135 | G/A | regulatory region variant | likely benign |
| rs2293607 | 3:169,482,335 | T/C | coding sequence variant | benign |
| rs1060502986 | 3:169,482,398 | G/A | — | uncertain significance |
| rs199422287 | 3:169,482,399 | C/T | coding sequence variant | pathogenic |
| rs2108182721 | 3:169,482,400 | A/C | — | uncertain significance |
| rs1560578539 | 3:169,482,405 | T/C | — | uncertain significance |
| rs1553915577 | 3:169,482,406 | G/T | — | likely pathogenic |
| rs2108182728 | 3:169,482,409 | C/T | — | uncertain significance |
| rs1777956819 | 3:169,482,410 | C/T | — | uncertain significance |
| rs2108182735 | 3:169,482,415 | C/T | — | uncertain significance |
| rs2108182738 | 3:169,482,416 | C/T | — | uncertain significance |
| rs1479831336 | 3:169,482,417 | T/C | — | uncertain significance |
| rs1374142931 | 3:169,482,418 | G/A | — | uncertain significance |
| rs1230531511 | 3:169,482,419 | G/C | — | uncertain significance |
| rs1777957096 | 3:169,482,422 | G/A | — | uncertain significance |
| rs1337708802 | 3:169,482,425 | C/A | — | uncertain significance |
| rs776902194 | 3:169,482,426 | G/A | — | uncertain significance |
| rs762726864 | 3:169,482,434 | G/A | — | uncertain significance |
| rs199422282 | 3:169,482,434 | — | — | — |
| rs199422286 | 3:169,482,439 | G/C | coding sequence variant | uncertain significance |
| rs766203739 | 3:169,482,440 | G/A | — | uncertain significance |
| rs199422284 | 3:169,482,441 | G/A | coding sequence variant | uncertain significance |
| rs138034348 | 3:169,482,444 | T/C | — | uncertain significance |
| rs2108182785 | 3:169,482,445 | C/A | — | uncertain significance |
| rs759566601 | 3:169,482,448 | G/A | — | uncertain significance |
| rs767519425 | 3:169,482,452 | C/G | — | uncertain significance |
| rs1483089001 | 3:169,482,453 | G/A | — | uncertain significance |
| rs1415109076 | 3:169,482,454 | C/A | — | uncertain significance |
| rs1577384103 | 3:169,482,456 | C/T | — | uncertain significance |
| rs1777957949 | 3:169,482,457 | G/T | — | uncertain significance |
| rs1046452760 | 3:169,482,458 | G/A | — | uncertain significance |
| rs1777958283 | 3:169,482,459 | G/T | — | uncertain significance |
| rs762378141 | 3:169,482,460 | G/A | — | uncertain significance |
| rs2108182814 | 3:169,482,464 | C/T | — | uncertain significance |
| rs1777958436 | 3:169,482,465 | G/A | — | uncertain significance |
| rs1777958465 | 3:169,482,467 | T/C | — | uncertain significance |
| rs886039437 | 3:169,482,468 | C/T | coding sequence variant | pathogenic |
| rs371867605 | 3:169,482,469 | C/T | — | uncertain significance |
| rs2108182826 | 3:169,482,474 | C/T | — | uncertain significance |
| rs1777958605 | 3:169,482,476 | C/A | — | uncertain significance |
| rs755659962 | 3:169,482,478 | T/C | — | uncertain significance |
| rs2474261971 | 3:169,482,482 | G/A | — | uncertain significance |
| rs1560578577 | 3:169,482,483 | C/A | — | uncertain significance |
| rs1281896655 | 3:169,482,484 | G/A | — | uncertain significance |
| rs2108182842 | 3:169,482,485 | G/C | — | uncertain significance |
| rs1475263094 | 3:169,482,486 | C/G | — | uncertain significance |
| rs1553915587 | 3:169,482,487 | C/A | — | uncertain significance |
| rs777348518 | 3:169,482,489 | G/C | — | uncertain significance |
| rs753524068 | 3:169,482,490 | A/G | — | uncertain significance |
| rs569827301 | 3:169,482,492 | A/T | — | uncertain significance |
| rs2474261995 | 3:169,482,494 | G/T | — | uncertain significance |
| rs2474261997 | 3:169,482,496 | C/G | — | uncertain significance |
| rs925088948 | 3:169,482,498 | G/C | — | uncertain significance |
| rs2108182875 | 3:169,482,500 | A/G | — | uncertain significance |
| rs1777959711 | 3:169,482,503 | T/A | — | uncertain significance |
| rs2108182881 | 3:169,482,504 | C/A | — | uncertain significance |
| rs374793413 | 3:169,482,505 | G/A | — | uncertain significance |
| rs1777959766 | 3:169,482,508 | C/T | — | uncertain significance |
| rs746192063 | 3:169,482,509 | T/G | — | uncertain significance |
| rs772608895 | 3:169,482,510 | C/G | — | uncertain significance |
| rs935100722 | 3:169,482,511 | G/A | — | uncertain significance |
| rs2474262054 | 3:169,482,514 | C/A | — | uncertain significance |
| rs1286250326 | 3:169,482,517 | G/A | — | uncertain significance |
| rs2108182899 | 3:169,482,518 | A/G | — | uncertain significance |
| rs1337845154 | 3:169,482,522 | A/T | — | uncertain significance |
| rs1777959964 | 3:169,482,524 | C/A | — | pathogenic |
| rs199422281 | 3:169,482,526 | G/A | coding sequence variant | pathogenic |
| rs199422280 | 3:169,482,527 | C/T | coding sequence variant | pathogenic |
| rs747154095 | 3:169,482,528 | G/A | — | uncertain significance |
| rs1553915590 | 3:169,482,530 | C/T | — | likely pathogenic |
| rs2108182912 | 3:169,482,532 | G/A | — | uncertain significance |
| rs2108182925 | 3:169,482,538 | G/C | — | uncertain significance |
| rs1553915591 | 3:169,482,543 | A/C | — | likely pathogenic |
| rs199422279 | 3:169,482,544 | C/T | coding sequence variant | pathogenic |
| rs1777960206 | 3:169,482,546 | C/G | — | uncertain significance |
| rs768781410 | 3:169,482,550 | G/A | — | uncertain significance |
| rs2108182936 | 3:169,482,551 | C/T | — | uncertain significance |
| rs1206628752 | 3:169,482,552 | G/A | — | uncertain significance |
| rs2108182940 | 3:169,482,553 | G/T | — | uncertain significance |
| rs1297308302 | 3:169,482,554 | T/C | — | uncertain significance |
| rs1254978694 | 3:169,482,555 | G/A | — | uncertain significance |
| rs1777960407 | 3:169,482,562 | G/T | — | uncertain significance |
| rs2474262148 | 3:169,482,563 | G/C | — | uncertain significance |
| rs1777960434 | 3:169,482,564 | T/C | — | uncertain significance |
| rs1577384177 | 3:169,482,565 | G/A | — | uncertain significance |
| rs2108182963 | 3:169,482,566 | C/A | — | uncertain significance |
| rs1777960488 | 3:169,482,567 | C/T | — | uncertain significance |
| rs917597821 | 3:169,482,568 | T/C | — | uncertain significance |
| rs776511480 | 3:169,482,569 | C/G | — | uncertain significance |
| rs2108182975 | 3:169,482,570 | C/A | — | uncertain significance |
| rs1777960566 | 3:169,482,571 | G/A | — | uncertain significance |
| rs1174129039 | 3:169,482,573 | A/G | — | uncertain significance |
| rs1239048914 | 3:169,482,574 | G/A | — | uncertain significance |
| rs1777960642 | 3:169,482,579 | C/T | — | uncertain significance |
| rs2108182996 | 3:169,482,581 | C/T | — | uncertain significance |
| rs762111072 | 3:169,482,582 | G/A | — | uncertain significance |
| rs1777960682 | 3:169,482,583 | G/A | — | uncertain significance |
| rs1167306715 | 3:169,482,584 | G/A | — | uncertain significance |
| rs2108183010 | 3:169,482,588 | A/C | — | uncertain significance |
| rs1577384186 | 3:169,482,591 | G/A | — | uncertain significance |
Showing 100 of 265 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.