CDK6
cyclin dependent kinase 6
Summary
The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8179 | 7:92,236,164 | T/A | — | — |
| rs4272 | 7:92,236,829 | A/T | — | — |
| rs42031 | 7:92,237,396 | A/T | 3 prime UTR variant | — |
| rs42032 | 7:92,237,426 | G/A | 3 prime UTR variant | — |
| rs42033 | 7:92,237,533 | A/T | 3 prime UTR variant | — |
| rs42034 | 7:92,239,144 | A/G | regulatory region variant | association |
| rs42035 | 7:92,239,531 | A/T | — | — |
| rs42036 | 7:92,241,451 | C/A | — | — |
| rs42038 | 7:92,243,719 | C/T | 3 prime UTR variant | — |
| rs42039 | 7:92,244,422 | C/T | — | benign |
| rs140409009 | 7:92,244,486 | T/A | — | likely benign |
| rs143588734 | 7:92,244,490 | C/T | — | likely benign |
| rs371298524 | 7:92,244,541 | T/C | — | likely benign |
| rs55860121 | 7:92,244,589 | T/C | — | likely benign |
| rs42041 | 7:92,246,744 | C/G | intron variant | — |
| rs42042 | 7:92,247,112 | C/T | — | benign |
| rs42043 | 7:92,247,333 | G/A | — | benign |
| rs772153440 | 7:92,247,445 | C/T | — | uncertain significance |
| rs376045874 | 7:92,247,506 | T/G | — | likely benign |
| rs902137115 | 7:92,247,520 | C/T | — | uncertain significance |
| rs3731373 | 7:92,247,539 | A/G | — | benign |
| rs42235 | 7:92,248,076 | C/T | intron variant | — |
| rs3731366 | 7:92,249,777 | T/C | intron variant | — |
| rs42046 | 7:92,252,203 | C/G | — | benign |
| rs2116494778 | 7:92,252,351 | C/T | — | uncertain significance |
| rs369229292 | 7:92,252,389 | C/T | — | uncertain significance |
| rs766781363 | 7:92,252,397 | A/G | — | benign |
| rs2040494 | 7:92,256,905 | C/T | intron variant | — |
| rs2282978 | 7:92,264,410 | T/C | regulatory region variant | — |
| rs66939011 | 7:92,265,798 | T/C | intron variant | — |
| rs73232024 | 7:92,277,315 | G/A | intron variant | — |
| rs2282983 | 7:92,279,363 | T/C | — | association |
| rs11765954 | 7:92,280,695 | T/C | intron variant | — |
| rs6948097 | 7:92,281,953 | C/T | intron variant | — |
| rs73232029 | 7:92,287,283 | G/C | intron variant | — |
| rs199808714 | 7:92,288,952 | C/A | — | — |
| rs4727280 | 7:92,296,829 | C/G | — | — |
| rs2301556 | 7:92,300,587 | G/A | — | benign |
| rs376787863 | 7:92,300,790 | G/A | — | likely benign |
| rs606231255 | 7:92,300,798 | C/G | missense variant | pathogenic |
| rs140690409 | 7:92,300,799 | G/A | — | likely benign |
| rs748277804 | 7:92,300,823 | G/C | — | likely benign |
| rs150126273 | 7:92,300,841 | C/T | — | likely benign |
| rs2301557 | 7:92,300,863 | C/T | — | benign |
| rs9640606 | 7:92,301,040 | C/T | — | benign |
| rs146039611 | 7:92,323,422 | G/A | intron variant | — |
| rs2079146 | 7:92,331,695 | T/C | upstream gene variant | — |
| rs2079147 | 7:92,332,375 | A/G | upstream gene variant | — |
| rs10225916 | 7:92,354,683 | T/A | — | benign |
| rs770060899 | 7:92,354,942 | C/A | — | uncertain significance |
| rs2116709606 | 7:92,354,984 | C/T | — | uncertain significance |
| rs1011850285 | 7:92,354,993 | C/T | — | uncertain significance |
| rs34257565 | 7:92,355,033 | T/A | — | benign |
| rs2116710499 | 7:92,355,082 | C/G | — | uncertain significance |
| rs3731314 | 7:92,355,225 | C/T | — | benign |
| rs11974170 | 7:92,359,411 | A/G | intron variant | — |
| rs10 | 7:92,383,888 | A/T | — | — |
| rs3731303 | 7:92,403,859 | C/T | — | benign |
| rs35654944 | 7:92,404,051 | C/T | — | conflicting classifications of pathogenicity |
| rs372372931 | 7:92,404,085 | A/G | — | likely benign |
| rs8 | 7:92,408,329 | C/T | regulatory region variant | — |
| rs445 | 7:92,408,370 | C/T | regulatory region variant | — |
| rs117796712 | 7:92,443,985 | C/T | intron variant | — |
| rs3731265 | 7:92,461,100 | C/T | regulatory region variant | — |
| rs566044832 | 7:92,462,397 | T/A | — | likely benign |
| rs1394553206 | 7:92,462,478 | T/C | — | uncertain significance |
| rs189208543 | 7:92,462,572 | G/A | — | likely benign |
| rs2116034735 | 7:92,462,613 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.