FBXL3
F-box and leucine rich repeat protein 3
Summary
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs76487761 | 13:77,581,471 | G/A | — | benign |
| rs1566225872 | 13:77,581,495 | A/G | — | pathogenic |
| rs745444479 | 13:77,581,510 | G/A | — | uncertain significance |
| rs2501182250 | 13:77,581,665 | T/C | — | uncertain significance |
| rs1290004770 | 13:77,581,791 | A/G | — | uncertain significance |
| rs2154035941 | 13:77,581,816 | G/A | — | pathogenic |
| rs1773045 | 13:77,584,886 | G/A | intron variant | — |
| rs376976717 | 13:77,589,587 | G/C | — | likely benign |
| rs1420774136 | 13:77,589,714 | G/A | — | uncertain significance |
| rs599115 | 13:77,589,725 | C/A | — | benign |
| rs9573980 | 13:77,590,741 | A/T | — | — |
| rs591576 | 13:77,590,936 | A/G | — | benign |
| rs1482803798 | 13:77,592,760 | C/T | — | uncertain significance |
| rs374431043 | 13:77,592,761 | G/A | — | pathogenic |
| rs2501218063 | 13:77,592,767 | T/C | — | uncertain significance |
| rs2501218071 | 13:77,592,768 | T/G | — | likely benign |
| rs370379122 | 13:77,592,772 | A/G | — | uncertain significance |
| rs541094460 | 13:77,592,819 | A/G | — | likely benign |
| rs2034744487 | 13:77,595,705 | C/A | — | uncertain significance |
| rs2501227828 | 13:77,595,713 | G/A | — | uncertain significance |
| rs778642310 | 13:77,595,824 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.