GAK
cyclin G associated kinase
Summary
In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Known Variants116 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769703352 | 4:843,477 | G/A | — | uncertain significance |
| rs772658680 | 4:843,478 | A/G | — | uncertain significance |
| rs142107211 | 4:843,498 | G/A | — | likely benign |
| rs7693026 | 4:843,506 | G/A | — | benign |
| rs750566114 | 4:843,511 | T/G | — | uncertain significance |
| rs55904229 | 4:843,536 | G/A | — | benign |
| rs370892923 | 4:843,546 | T/C | — | uncertain significance |
| rs201472926 | 4:843,549 | G/A | — | uncertain significance |
| rs149200314 | 4:843,708 | C/T | — | uncertain significance |
| rs2306242 | 4:843,720 | T/C | — | benign |
| rs779840058 | 4:843,735 | G/A | — | uncertain significance |
| rs141947839 | 4:843,749 | G/A | — | likely benign |
| rs149742374 | 4:843,765 | G/A | — | uncertain significance |
| rs2529877743 | 4:843,784 | C/T | — | uncertain significance |
| rs1254053425 | 4:843,795 | G/A | — | uncertain significance |
| rs150598346 | 4:844,728 | A/C | — | benign |
| rs994089843 | 4:844,743 | G/A | — | uncertain significance |
| rs768579483 | 4:844,803 | G/C | — | uncertain significance |
| rs1748190642 | 4:845,574 | C/T | — | uncertain significance |
| rs777823118 | 4:845,577 | C/T | — | uncertain significance |
| rs777108426 | 4:845,597 | G/A | — | uncertain significance |
| rs2529995634 | 4:845,600 | T/C | — | uncertain significance |
| rs151123471 | 4:845,630 | G/C | — | benign |
| rs753861522 | 4:845,637 | G/C | — | uncertain significance |
| rs150254936 | 4:845,648 | G/A | — | uncertain significance |
| rs142037003 | 4:845,737 | C/A | — | likely benign |
| rs1564282 | 4:852,313 | C/T | intron variant | — |
| rs745660937 | 4:853,415 | C/T | — | uncertain significance |
| rs1478752897 | 4:853,434 | G/C | — | uncertain significance |
| rs139690161 | 4:853,438 | G/A | — | likely benign |
| rs201241614 | 4:853,458 | G/C | — | uncertain significance |
| rs147175932 | 4:853,459 | C/G | — | uncertain significance |
| rs199901666 | 4:853,483 | G/T | — | uncertain significance |
| rs76800394 | 4:855,813 | G/A | intron variant | — |
| rs11248051 | 4:858,332 | C/G | — | — |
| rs919888918 | 4:858,963 | G/A | — | uncertain significance |
| rs1057475395 | 4:858,997 | A/G | — | uncertain significance |
| rs142955360 | 4:859,016 | T/C | — | likely benign |
| rs779648541 | 4:860,191 | C/A | — | uncertain significance |
| rs1238691254 | 4:860,209 | A/G | — | uncertain significance |
| rs893361522 | 4:860,229 | G/A | — | uncertain significance |
| rs138724620 | 4:860,248 | C/T | — | uncertain significance |
| rs757746623 | 4:860,257 | G/T | — | uncertain significance |
| rs199713255 | 4:860,296 | A/T | — | uncertain significance |
| rs143612464 | 4:860,298 | G/A | — | likely benign |
| rs143655919 | 4:860,747 | C/G | — | uncertain significance |
| rs1468860007 | 4:860,764 | C/T | — | uncertain significance |
| rs140439488 | 4:860,768 | G/C | — | uncertain significance |
| rs368118041 | 4:860,789 | G/C | — | uncertain significance |
| rs745833929 | 4:860,839 | G/T | — | uncertain significance |
| rs200903151 | 4:860,891 | C/T | — | uncertain significance |
| rs1389428509 | 4:860,909 | C/A | — | uncertain significance |
| rs368428903 | 4:860,935 | G/A | — | uncertain significance |
| rs764169845 | 4:860,942 | C/T | — | uncertain significance |
| rs2530789121 | 4:860,981 | C/G | — | uncertain significance |
| rs201584204 | 4:861,014 | G/C | — | uncertain significance |
| rs766292898 | 4:861,042 | C/A | — | uncertain significance |
| rs201361013 | 4:861,080 | C/T | — | uncertain significance |
| rs368064003 | 4:861,081 | G/A | — | likely benign |
| rs756019452 | 4:861,101 | C/T | — | uncertain significance |
| rs28640071 | 4:861,170 | C/T | — | benign |
| rs765101991 | 4:861,212 | C/T | — | uncertain significance |
| rs115244803 | 4:862,340 | C/A | — | likely benign |
| rs147004796 | 4:862,342 | T/G | — | uncertain significance |
| rs535238444 | 4:862,353 | C/T | — | likely benign |
| rs34585705 | 4:862,363 | C/A | — | benign |
| rs141655027 | 4:864,532 | G/A | — | uncertain significance |
| rs1343556608 | 4:864,535 | T/C | — | uncertain significance |
| rs114856459 | 4:864,589 | G/A | — | likely benign |
| rs199633903 | 4:864,597 | C/T | — | uncertain significance |
| rs139900404 | 4:870,345 | C/T | — | uncertain significance |
| rs769360185 | 4:870,913 | C/A | — | uncertain significance |
| rs201465712 | 4:870,955 | C/A | — | uncertain significance |
| rs770432375 | 4:870,975 | C/T | — | uncertain significance |
| rs1046117493 | 4:871,411 | G/T | — | uncertain significance |
| rs35964990 | 4:871,501 | C/T | — | benign |
| rs34255232 | 4:871,521 | C/T | — | uncertain significance |
| rs753447635 | 4:875,750 | C/T | — | uncertain significance |
| rs774009838 | 4:875,777 | G/A | — | uncertain significance |
| rs771972176 | 4:875,790 | G/C | — | uncertain significance |
| rs948861234 | 4:876,487 | T/C | — | uncertain significance |
| rs146926083 | 4:876,497 | G/A | — | benign |
| rs777153184 | 4:876,505 | C/T | — | uncertain significance |
| rs758613775 | 4:876,522 | C/T | — | uncertain significance |
| rs747405070 | 4:876,579 | C/T | — | uncertain significance |
| rs1413590717 | 4:876,594 | C/G | — | uncertain significance |
| rs144499981 | 4:877,115 | C/A | — | uncertain significance |
| rs751108615 | 4:877,137 | G/A | — | uncertain significance |
| rs776533641 | 4:877,192 | G/A | — | uncertain significance |
| rs4690203 | 4:881,228 | C/T | regulatory region variant | — |
| rs2531877715 | 4:882,681 | T/C | — | uncertain significance |
| rs750239343 | 4:882,689 | C/T | — | uncertain significance |
| rs1382801949 | 4:882,711 | T/C | — | uncertain significance |
| rs747796588 | 4:882,723 | C/T | — | uncertain significance |
| rs1717094482 | 4:882,725 | C/G | — | uncertain significance |
| rs1717096653 | 4:882,732 | G/A | — | uncertain significance |
| rs749984140 | 4:884,380 | C/T | — | likely benign |
| rs757695744 | 4:887,191 | C/T | — | uncertain significance |
| rs750477519 | 4:887,193 | T/G | — | uncertain significance |
| rs372500341 | 4:887,275 | C/T | — | uncertain significance |
Showing 100 of 116 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.