TK2
thymidine kinase 2
Summary
This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]
Known Variants429 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs74451221 | 16:66,542,085 | G/A | — | benign |
| rs549738791 | 16:66,542,108 | C/A | — | uncertain significance |
| rs745480813 | 16:66,542,433 | C/T | — | uncertain significance |
| rs1474245616 | 16:66,542,503 | C/A | — | uncertain significance |
| rs138127133 | 16:66,542,540 | G/A | — | uncertain significance |
| rs1169766872 | 16:66,542,586 | C/T | — | uncertain significance |
| rs774804296 | 16:66,542,616 | T/C | — | uncertain significance |
| rs1032599030 | 16:66,542,653 | T/G | — | uncertain significance |
| rs768065808 | 16:66,542,678 | C/T | — | uncertain significance |
| rs1185518504 | 16:66,542,886 | C/T | — | uncertain significance |
| rs1280782133 | 16:66,542,927 | C/A | — | uncertain significance |
| rs3743711 | 16:66,542,957 | G/A | — | benign |
| rs532588163 | 16:66,542,969 | G/A | — | uncertain significance |
| rs886052194 | 16:66,543,098 | G/C | — | uncertain significance |
| rs530570863 | 16:66,543,234 | C/T | — | uncertain significance |
| rs574199934 | 16:66,543,331 | C/A | — | likely benign |
| rs35138698 | 16:66,543,421 | T/C | — | benign |
| rs964325376 | 16:66,543,438 | T/C | — | uncertain significance |
| rs74372298 | 16:66,543,452 | G/A | — | benign |
| rs567482803 | 16:66,543,496 | C/T | — | uncertain significance |
| rs139593959 | 16:66,543,573 | G/A | — | likely benign |
| rs3743712 | 16:66,543,650 | A/G | — | benign |
| rs963895395 | 16:66,543,725 | C/T | — | uncertain significance |
| rs193271947 | 16:66,543,749 | C/T | — | uncertain significance |
| rs10454065 | 16:66,543,750 | G/A | — | uncertain significance |
| rs1435674483 | 16:66,543,885 | C/G | — | uncertain significance |
| rs145016391 | 16:66,543,912 | C/T | — | benign |
| rs548520268 | 16:66,544,131 | A/G | — | likely benign |
| rs886052198 | 16:66,544,133 | G/A | — | uncertain significance |
| rs886052199 | 16:66,544,189 | A/C | — | uncertain significance |
| rs538743722 | 16:66,544,190 | T/C | — | uncertain significance |
| rs1964415276 | 16:66,544,200 | C/G | — | uncertain significance |
| rs886052200 | 16:66,544,253 | G/T | — | uncertain significance |
| rs1043059553 | 16:66,544,274 | C/T | — | uncertain significance |
| rs886052202 | 16:66,544,399 | T/A | — | uncertain significance |
| rs1964420428 | 16:66,544,408 | A/C | — | uncertain significance |
| rs886052203 | 16:66,544,416 | G/C | — | uncertain significance |
| rs577231164 | 16:66,544,428 | G/T | — | uncertain significance |
| rs886052204 | 16:66,544,468 | T/C | — | uncertain significance |
| rs187682220 | 16:66,544,538 | C/A | — | uncertain significance |
| rs561996737 | 16:66,544,579 | C/T | — | uncertain significance |
| rs745307045 | 16:66,544,659 | G/A | — | uncertain significance |
| rs879622108 | 16:66,544,827 | G/T | — | uncertain significance |
| rs948674132 | 16:66,544,842 | A/T | — | uncertain significance |
| rs886052205 | 16:66,544,950 | C/T | — | uncertain significance |
| rs373278953 | 16:66,545,038 | A/C | — | uncertain significance |
| rs886052206 | 16:66,545,062 | G/A | — | uncertain significance |
| rs975262215 | 16:66,545,098 | G/A | — | uncertain significance |
| rs880530 | 16:66,545,106 | A/G | — | benign |
| rs149832105 | 16:66,545,111 | A/C | — | likely benign |
| rs886160476 | 16:66,545,142 | T/C | — | uncertain significance |
| rs886052207 | 16:66,545,183 | G/A | — | uncertain significance |
| rs886052208 | 16:66,545,256 | T/G | — | uncertain significance |
| rs886052209 | 16:66,545,276 | C/T | — | uncertain significance |
| rs183596247 | 16:66,545,386 | G/C | — | uncertain significance |
| rs369868888 | 16:66,545,420 | C/T | — | uncertain significance |
| rs775590447 | 16:66,545,427 | C/A | — | uncertain significance |
| rs544189950 | 16:66,545,529 | G/T | — | uncertain significance |
| rs575041315 | 16:66,545,544 | C/T | — | uncertain significance |
| rs904749580 | 16:66,545,648 | C/T | — | uncertain significance |
| rs926935953 | 16:66,545,671 | C/A | — | uncertain significance |
| rs756911935 | 16:66,545,856 | T/C | — | uncertain significance |
| rs1228539651 | 16:66,545,874 | T/C | — | likely benign |
| rs1288452721 | 16:66,545,876 | G/A | — | uncertain significance |
| rs1332014371 | 16:66,545,877 | G/A | — | likely benign |
| rs780483040 | 16:66,545,887 | C/A | — | uncertain significance |
| rs1192867464 | 16:66,545,889 | A/G | — | likely benign |
| rs2507067908 | 16:66,545,903 | A/G | — | likely benign |
| rs2507067931 | 16:66,545,905 | A/T | — | uncertain significance |
| rs144419486 | 16:66,545,906 | T/C | — | conflicting classifications of pathogenicity |
| rs281865498 | 16:66,545,909 | G/A | stop gained | pathogenic |
| rs772329162 | 16:66,545,914 | C/T | — | uncertain significance |
| rs373264612 | 16:66,545,915 | G/A | — | uncertain significance |
| rs147834546 | 16:66,545,925 | A/G | — | likely benign |
| rs1315877736 | 16:66,545,932 | T/A | — | uncertain significance |
| rs1057521899 | 16:66,545,942 | T/G | — | likely benign |
| rs2507068197 | 16:66,545,948 | T/C | — | uncertain significance |
| rs370500055 | 16:66,545,954 | G/A | — | uncertain significance |
| rs1360573779 | 16:66,545,961 | C/T | — | likely benign |
| rs2144333441 | 16:66,545,963 | C/T | — | uncertain significance |
| rs1315779439 | 16:66,545,965 | A/G | — | uncertain significance |
| rs1964467305 | 16:66,545,980 | G/T | — | likely benign |
| rs16956600 | 16:66,545,982 | C/T | — | likely benign |
| rs764174636 | 16:66,545,984 | C/T | — | likely benign |
| rs756784379 | 16:66,545,986 | T/C | — | likely benign |
| rs2507068371 | 16:66,545,987 | G/A | — | likely benign |
| rs780831882 | 16:66,545,988 | G/A | — | likely benign |
| rs750057766 | 16:66,545,989 | G/A | — | likely benign |
| rs141234377 | 16:66,546,029 | C/T | — | benign |
| rs116742669 | 16:66,547,555 | G/A | — | likely benign |
| rs2144339450 | 16:66,547,618 | A/T | — | likely benign |
| rs2507074281 | 16:66,547,619 | G/C | — | likely benign |
| rs373230604 | 16:66,547,621 | G/A | — | uncertain significance |
| rs2507074300 | 16:66,547,623 | G/A | — | likely benign |
| rs1252881799 | 16:66,547,635 | A/G | — | uncertain significance |
| rs576020835 | 16:66,547,639 | C/G | — | uncertain significance |
| rs2144339570 | 16:66,547,641 | G/A | — | conflicting classifications of pathogenicity |
| rs377466522 | 16:66,547,642 | G/A | — | uncertain significance |
| rs2144339612 | 16:66,547,643 | G/A | — | likely benign |
| rs1597073994 | 16:66,547,644 | G/A | — | uncertain significance |
Showing 100 of 429 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.