TERT
telomerase reverse transcriptase
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, encoded by this gene, and an RNA component which 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. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
Known Variants2,363 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2853691 | 5:1,252,950 | T/C | downstream gene variant | — |
| rs920370048 | 5:1,253,504 | A/G | — | uncertain significance |
| rs1747469600 | 5:1,253,535 | T/C | — | uncertain significance |
| rs567092780 | 5:1,253,606 | G/A | — | uncertain significance |
| rs751808151 | 5:1,253,613 | A/G | — | uncertain significance |
| rs114012142 | 5:1,253,690 | G/A | — | benign |
| rs886059830 | 5:1,253,739 | G/A | — | uncertain significance |
| rs2853690 | 5:1,253,744 | G/A | 3 prime UTR variant | benign |
| rs533940688 | 5:1,253,760 | C/T | — | uncertain significance |
| rs1327773385 | 5:1,253,779 | C/T | — | uncertain significance |
| rs5031049 | 5:1,253,780 | G/A | — | likely benign |
| rs771745814 | 5:1,253,833 | C/T | — | likely benign |
| rs1554038048 | 5:1,253,843 | T/C | — | conflicting classifications of pathogenicity |
| rs2478065534 | 5:1,253,851 | G/A | — | likely benign |
| rs2478065571 | 5:1,253,855 | G/A | — | likely benign |
| rs775095158 | 5:1,253,856 | G/C | — | uncertain significance |
| rs2126556832 | 5:1,253,861 | G/A | — | likely benign |
| rs1457310362 | 5:1,253,864 | G/A | — | likely benign |
| rs2478065699 | 5:1,253,867 | T/C | — | likely benign |
| rs2478065733 | 5:1,253,869 | A/C | — | conflicting classifications of pathogenicity |
| rs2126556860 | 5:1,253,870 | G/C | — | likely benign |
| rs2126556867 | 5:1,253,871 | G/A | — | uncertain significance |
| rs529179931 | 5:1,253,873 | C/T | — | likely benign |
| rs1554038052 | 5:1,253,875 | G/C | — | uncertain significance |
| rs750020682 | 5:1,253,879 | C/T | — | likely benign |
| rs1554038054 | 5:1,253,880 | G/A | — | uncertain significance |
| rs2478065885 | 5:1,253,881 | G/C | — | uncertain significance |
| rs758092349 | 5:1,253,882 | G/A | — | likely benign |
| rs781651959 | 5:1,253,884 | T/G | — | uncertain significance |
| rs1308414404 | 5:1,253,886 | G/C | — | uncertain significance |
| rs753112435 | 5:1,253,887 | C/T | — | likely benign |
| rs756628621 | 5:1,253,890 | C/T | — | uncertain significance |
| rs192377676 | 5:1,253,891 | G/A | — | likely benign |
| rs372822033 | 5:1,253,892 | G/T | — | uncertain significance |
| rs749874887 | 5:1,253,893 | C/A | — | uncertain significance |
| rs1196160200 | 5:1,253,896 | C/G | — | uncertain significance |
| rs2126557086 | 5:1,253,899 | G/C | — | uncertain significance |
| rs2126557093 | 5:1,253,900 | G/A | — | likely benign |
| rs2126557105 | 5:1,253,901 | G/A | — | uncertain significance |
| rs2478066310 | 5:1,253,902 | C/T | — | uncertain significance |
| rs1404530857 | 5:1,253,904 | G/A | — | uncertain significance |
| rs2478066382 | 5:1,253,905 | T/G | — | uncertain significance |
| rs1554038061 | 5:1,253,906 | C/G | — | likely benign |
| rs2478066445 | 5:1,253,907 | A/G | — | uncertain significance |
| rs1579541689 | 5:1,253,908 | G/T | — | uncertain significance |
| rs200102606 | 5:1,253,909 | C/T | — | conflicting classifications of pathogenicity |
| rs370686937 | 5:1,253,910 | G/A | — | uncertain significance |
| rs772311888 | 5:1,253,912 | C/T | — | likely benign |
| rs199422306 | 5:1,253,913 | G/A | missense variant | uncertain significance |
| rs2478066648 | 5:1,253,914 | T/C | — | conflicting classifications of pathogenicity |
| rs185829989 | 5:1,253,916 | C/T | — | uncertain significance |
| rs2126557234 | 5:1,253,917 | C/T | — | uncertain significance |
| rs35033501 | 5:1,253,918 | T/C | — | likely benign |
| rs376255453 | 5:1,253,919 | G/A | — | conflicting classifications of pathogenicity |
| rs763647787 | 5:1,253,920 | G/A | — | uncertain significance |
| rs1382097700 | 5:1,253,921 | G/A | — | likely benign |
| rs2478066968 | 5:1,253,922 | A/T | — | uncertain significance |
| rs2478066991 | 5:1,253,923 | G/C | — | uncertain significance |
| rs1579541749 | 5:1,253,925 | T/C | — | uncertain significance |
| rs2478067068 | 5:1,253,927 | C/G | — | likely benign |
| rs532930887 | 5:1,253,928 | C/T | — | likely benign |
| rs945881076 | 5:1,253,929 | G/A | — | uncertain significance |
| rs1579541768 | 5:1,253,932 | T/A | — | conflicting classifications of pathogenicity |
| rs1311028871 | 5:1,253,933 | C/T | — | likely benign |
| rs2478067299 | 5:1,253,935 | G/C | — | uncertain significance |
| rs2478067346 | 5:1,253,936 | C/T | — | likely benign |
| rs1042447238 | 5:1,253,938 | G/T | — | uncertain significance |
| rs551516320 | 5:1,253,939 | C/T | — | likely benign |
| rs764602705 | 5:1,253,940 | G/A | — | conflicting classifications of pathogenicity |
| rs2478067464 | 5:1,253,942 | C/G | — | uncertain significance |
| rs2478067481 | 5:1,253,943 | T/C | — | uncertain significance |
| rs2478067499 | 5:1,253,945 | G/A | — | likely benign |
| rs780229179 | 5:1,253,950 | C/T | — | likely benign |
| rs371015305 | 5:1,253,951 | G/A | — | conflicting classifications of pathogenicity |
| rs1579541812 | 5:1,253,953 | G/A | — | likely benign |
| rs745650415 | 5:1,253,954 | G/T | — | likely benign |
| rs1579541842 | 5:1,253,955 | C/A | — | likely benign |
| rs2126557489 | 5:1,253,957 | A/C | — | likely benign |
| rs1179835254 | 5:1,253,961 | T/C | — | likely benign |
| rs2478067677 | 5:1,253,962 | C/T | — | likely benign |
| rs2126557523 | 5:1,253,966 | C/T | — | likely benign |
| rs34506158 | 5:1,254,247 | C/G | — | benign |
| rs34996780 | 5:1,254,251 | C/T | — | benign |
| rs34742644 | 5:1,254,451 | T/C | — | benign |
| rs776506007 | 5:1,254,463 | T/C | — | likely benign |
| rs1747558247 | 5:1,254,470 | C/T | — | likely benign |
| rs2478073008 | 5:1,254,471 | A/G | — | likely benign |
| rs372330958 | 5:1,254,472 | C/T | — | likely benign |
| rs376994291 | 5:1,254,473 | C/T | — | uncertain significance |
| rs1579542562 | 5:1,254,476 | C/T | — | likely benign |
| rs2126559299 | 5:1,254,477 | A/G | — | uncertain significance |
| rs2126559305 | 5:1,254,478 | C/A | — | uncertain significance |
| rs2126559316 | 5:1,254,481 | G/A | — | uncertain significance |
| rs772535861 | 5:1,254,482 | C/T | — | uncertain significance |
| rs2126559326 | 5:1,254,483 | C/T | — | uncertain significance |
| rs1345598002 | 5:1,254,486 | T/G | — | uncertain significance |
| rs2478073146 | 5:1,254,487 | C/T | — | likely benign |
| rs1241468355 | 5:1,254,489 | T/C | — | uncertain significance |
| rs2126559357 | 5:1,254,490 | G/A | — | likely benign |
| rs2126559367 | 5:1,254,493 | T/G | — | likely benign |
Showing 100 of 2,363 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.