FBXO27
F-box protein 27
Summary
Members of the F-box protein family, such as FBXO27, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs369267515 | 19:39,516,062 | G/A | — | uncertain significance |
| rs139767377 | 19:39,516,144 | G/C | — | uncertain significance |
| rs1248348865 | 19:39,516,165 | C/A | — | uncertain significance |
| rs923431957 | 19:39,517,623 | C/T | — | uncertain significance |
| rs756786324 | 19:39,521,747 | T/C | — | uncertain significance |
| rs372038018 | 19:39,521,755 | G/C | — | uncertain significance |
| rs1474282576 | 19:39,522,513 | A/G | — | uncertain significance |
| rs140307492 | 19:39,522,570 | G/A | — | uncertain significance |
| rs900315974 | 19:39,522,723 | G/T | — | uncertain significance |
| rs200735613 | 19:39,522,817 | C/A | — | uncertain significance |
| rs767374933 | 19:39,522,833 | C/G | — | uncertain significance |
| rs567681620 | 19:39,524,018 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.