CCND1
cyclin D1
Summary
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs36225067 | 11:69,453,985 | A/G | — | — |
| rs55911137 | 11:69,456,000 | G/C | regulatory region variant | — |
| rs1590912454 | 11:69,456,261 | C/G | — | likely benign |
| rs1352075 | 11:69,457,293 | C/T | regulatory region variant | — |
| rs55816909 | 11:69,458,430 | G/C | — | benign |
| rs2120095114 | 11:69,458,742 | T/C | — | uncertain significance |
| rs1252289930 | 11:69,458,745 | C/T | — | uncertain significance |
| rs2120095281 | 11:69,458,754 | C/T | — | uncertain significance |
| rs3918296 | 11:69,459,036 | C/G | regulatory region variant | — |
| rs647451 | 11:69,461,731 | C/T | intron variant | — |
| rs602652 | 11:69,462,642 | G/A | intron variant | benign |
| rs137904082 | 11:69,462,836 | C/T | — | likely benign |
| rs3862792 | 11:69,462,856 | C/T | — | benign |
| rs984643266 | 11:69,462,876 | C/T | — | uncertain significance |
| rs745779714 | 11:69,462,878 | C/G | — | uncertain significance |
| rs760907398 | 11:69,462,901 | G/A | — | likely benign |
| rs9344 | 11:69,462,910 | G/A | splice region variant | risk factor |
| rs649392 | 11:69,464,793 | G/T | — | — |
| rs3212891 | 11:69,465,507 | C/T | — | — |
| rs2510467 | 11:69,465,681 | A/G | — | benign |
| rs3212892 | 11:69,465,860 | A/G | — | benign |
| rs201299704 | 11:69,465,897 | G/A | — | likely benign |
| rs771466787 | 11:69,465,915 | C/G | — | uncertain significance |
| rs2120120078 | 11:69,465,947 | C/T | — | uncertain significance |
| rs377271027 | 11:69,465,962 | A/G | — | uncertain significance |
| rs769921935 | 11:69,466,030 | G/A | — | uncertain significance |
| rs7177 | 11:69,466,115 | C/A | downstream gene variant | benign |
| rs678653 | 11:69,466,737 | C/G | regulatory region variant | — |
| rs562366357 | 11:69,466,821 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.