NEK4
NIMA related kinase 4
Summary
The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs182485847 | 3:52,745,881 | C/T | — | likely benign |
| rs181036162 | 3:52,755,563 | G/T | intron variant | — |
| rs11130319 | 3:52,755,592 | A/T | intron variant | — |
| rs13063138 | 3:52,759,254 | G/A | intron variant | — |
| rs2268027 | 3:52,766,606 | G/A | upstream gene variant | — |
| rs77464914 | 3:52,769,153 | T/C | downstream gene variant | — |
| rs11130325 | 3:52,770,984 | G/C | downstream gene variant | — |
| rs1578649049 | 3:52,771,650 | T/C | — | likely benign |
| rs138000848 | 3:52,771,672 | C/T | — | likely benign |
| rs11130326 | 3:52,771,920 | C/T | — | — |
| rs564617655 | 3:52,772,602 | G/A | — | — |
| rs747683504 | 3:52,773,495 | C/T | — | uncertain significance |
| rs2552115766 | 3:52,773,591 | A/G | — | uncertain significance |
| rs780574844 | 3:52,773,594 | T/C | — | uncertain significance |
| rs905103828 | 3:52,773,619 | C/T | — | uncertain significance |
| rs761986836 | 3:52,775,466 | G/A | — | uncertain significance |
| rs767467595 | 3:52,775,475 | C/G | — | uncertain significance |
| rs754208361 | 3:52,775,496 | C/T | — | uncertain significance |
| rs200698397 | 3:52,777,397 | G/A | — | likely benign |
| rs763361832 | 3:52,777,413 | C/A | — | uncertain significance |
| rs1353824082 | 3:52,777,442 | C/G | — | uncertain significance |
| rs776285364 | 3:52,778,311 | A/G | — | uncertain significance |
| rs183334039 | 3:52,778,321 | C/G | — | uncertain significance |
| rs140752930 | 3:52,780,135 | C/T | — | uncertain significance |
| rs750388223 | 3:52,780,156 | T/C | — | uncertain significance |
| rs1485180318 | 3:52,780,790 | T/C | — | uncertain significance |
| rs199859350 | 3:52,780,796 | G/C | — | uncertain significance |
| rs377177784 | 3:52,780,818 | G/A | — | uncertain significance |
| rs776292752 | 3:52,780,853 | T/C | — | likely benign |
| rs2552116946 | 3:52,780,868 | T/C | — | likely benign |
| rs761934347 | 3:52,780,895 | A/G | — | uncertain significance |
| rs1210554518 | 3:52,783,826 | T/C | — | likely benign |
| rs756748397 | 3:52,785,982 | T/C | — | uncertain significance |
| rs367778423 | 3:52,786,211 | T/C | — | uncertain significance |
| rs2268025 | 3:52,795,224 | A/T | intron variant | — |
| rs181819742 | 3:52,797,061 | T/C | intron variant | — |
| rs1340521223 | 3:52,797,501 | A/G | — | uncertain significance |
| rs2552119066 | 3:52,797,508 | A/C | — | uncertain significance |
| rs777334017 | 3:52,797,589 | T/G | — | uncertain significance |
| rs1698437987 | 3:52,797,606 | A/G | — | uncertain significance |
| rs1029871 | 3:52,797,634 | G/T | missense variant | — |
| rs80176849 | 3:52,797,668 | T/C | regulatory region variant | — |
| rs896765821 | 3:52,799,936 | C/A | — | uncertain significance |
| rs763039392 | 3:52,799,941 | C/T | — | uncertain significance |
| rs774612882 | 3:52,800,212 | G/C | — | uncertain significance |
| rs370377370 | 3:52,800,292 | G/A | — | not provided |
| rs373761384 | 3:52,800,319 | T/C | — | uncertain significance |
| rs1475385541 | 3:52,800,366 | T/C | — | uncertain significance |
| rs777829988 | 3:52,802,421 | T/C | — | uncertain significance |
| rs770259048 | 3:52,802,475 | T/C | — | uncertain significance |
| rs2552120008 | 3:52,802,563 | C/G | — | uncertain significance |
| rs780569606 | 3:52,802,575 | G/A | — | uncertain significance |
| rs756861186 | 3:52,804,686 | C/T | — | uncertain significance |
| rs1410497552 | 3:52,804,690 | G/A | — | uncertain significance |
| rs761660228 | 3:52,804,747 | A/G | — | uncertain significance |
| rs189372825 | 3:52,806,538 | T/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.