TLK1
tousled like kinase 1
Summary
The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1559328773 | 2:171,850,375 | C/T | — | uncertain significance |
| rs16859087 | 2:171,855,833 | G/A | intron variant | — |
| rs2468258751 | 2:171,863,548 | T/C | — | uncertain significance |
| rs1684682666 | 2:171,863,555 | G/C | — | uncertain significance |
| rs13006699 | 2:171,867,152 | A/G | intron variant | — |
| rs2468281500 | 2:171,871,393 | C/G | — | uncertain significance |
| rs144233945 | 2:171,871,416 | C/T | — | uncertain significance |
| rs35900609 | 2:171,893,689 | C/T | intron variant | — |
| rs12614580 | 2:171,904,516 | T/C | intron variant | — |
| rs778566612 | 2:171,906,409 | G/A | — | uncertain significance |
| rs2528392177 | 2:171,906,650 | T/C | — | uncertain significance |
| rs1352679715 | 2:171,906,665 | C/T | — | uncertain significance |
| rs1458863165 | 2:171,911,609 | G/A | — | uncertain significance |
| rs199612947 | 2:171,913,048 | A/G | — | uncertain significance |
| rs1991370 | 2:171,916,120 | C/A | — | — |
| rs778568596 | 2:171,917,638 | G/C | — | uncertain significance |
| rs2010114 | 2:171,924,308 | C/T | intron variant | — |
| rs34143031 | 2:171,936,542 | A/T | intron variant | — |
| rs2356600 | 2:171,956,263 | G/A | intron variant | — |
| rs7585619 | 2:171,971,787 | T/C | intron variant | — |
| rs2528629049 | 2:171,974,360 | C/T | — | uncertain significance |
| rs10183486 | 2:171,990,971 | C/T | intron variant | — |
| rs536862050 | 2:172,028,622 | A/G | — | — |
| rs728455 | 2:172,034,785 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.