FBXO46
F-box protein 46
Summary
Members of the F-box protein family, such as FBXO46, 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 Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs62111731 | 19:46,213,416 | A/T | — | — |
| rs1390777006 | 19:46,214,958 | C/T | — | uncertain significance |
| rs1218480511 | 19:46,214,967 | C/G | — | uncertain significance |
| rs918267686 | 19:46,214,983 | C/T | — | uncertain significance |
| rs745615697 | 19:46,215,118 | G/A | — | uncertain significance |
| rs769284170 | 19:46,215,471 | G/A | — | uncertain significance |
| rs892221014 | 19:46,215,495 | G/T | — | uncertain significance |
| rs905250838 | 19:46,215,498 | G/A | — | uncertain significance |
| rs2513660630 | 19:46,215,504 | T/G | — | uncertain significance |
| rs2513661033 | 19:46,215,675 | C/T | — | uncertain significance |
| rs202050242 | 19:46,215,691 | G/T | — | uncertain significance |
| rs758917548 | 19:46,215,762 | T/A | — | uncertain significance |
| rs777831877 | 19:46,215,940 | G/A | — | uncertain significance |
| rs371580693 | 19:46,216,064 | G/A | — | benign |
| rs375383163 | 19:46,216,144 | C/T | — | uncertain significance |
| rs369102631 | 19:46,216,264 | C/T | — | uncertain significance |
| rs974807728 | 19:46,216,285 | C/T | — | uncertain significance |
| rs369724742 | 19:46,216,294 | G/C | — | likely benign |
| rs1320631336 | 19:46,216,300 | C/T | — | uncertain significance |
| rs377664802 | 19:46,216,306 | G/A | — | uncertain significance |
| rs2513662886 | 19:46,216,342 | G/A | — | uncertain significance |
| rs1297243104 | 19:46,216,417 | T/C | — | uncertain significance |
| rs2513663640 | 19:46,216,608 | C/T | — | uncertain significance |
| rs1173668101 | 19:46,216,660 | G/A | — | uncertain significance |
| rs771926520 | 19:46,216,702 | C/T | — | uncertain significance |
| rs36120341 | 19:46,224,971 | C/T | intron variant | — |
| rs34388571 | 19:46,225,952 | G/T | — | — |
| rs57947504 | 19:46,227,880 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.