FBXL17
F-box and leucine rich repeat protein 17
Summary
Members of the F-box protein family, such as FBXL17, 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 Variants80 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751342494 | 5:107,197,548 | G/A | — | uncertain significance |
| rs10066241 | 5:107,267,432 | G/A | intron variant | — |
| rs10070308 | 5:107,281,621 | C/T | intron variant | — |
| rs72795979 | 5:107,282,348 | T/C | intron variant | — |
| rs72795980 | 5:107,282,349 | C/T | intron variant | — |
| rs867912 | 5:107,299,942 | T/A | intron variant | — |
| rs12514413 | 5:107,323,866 | T/C | intron variant | — |
| rs288181 | 5:107,349,285 | C/T | intron variant | — |
| rs13168762 | 5:107,352,487 | C/A | — | — |
| rs2531683748 | 5:107,356,644 | A/G | — | uncertain significance |
| rs2531683926 | 5:107,356,698 | C/T | — | uncertain significance |
| rs17382278 | 5:107,400,295 | G/A | intron variant | — |
| rs288139 | 5:107,400,505 | G/A | intron variant | — |
| rs11242661 | 5:107,401,451 | C/G | — | — |
| rs34415 | 5:107,428,786 | C/T | intron variant | — |
| rs149457 | 5:107,438,057 | C/T | intron variant | — |
| rs40067 | 5:107,439,012 | G/A | intron variant | — |
| rs549326362 | 5:107,444,481 | G/T | — | — |
| rs286809 | 5:107,458,637 | G/A | intron variant | — |
| rs286808 | 5:107,459,376 | T/G | — | — |
| rs256538 | 5:107,462,385 | T/C | intron variant | — |
| rs286802 | 5:107,468,569 | G/T | intron variant | — |
| rs40071 | 5:107,496,102 | T/C | intron variant | — |
| rs34425 | 5:107,498,891 | A/T | intron variant | — |
| rs6596771 | 5:107,512,536 | G/A | intron variant | — |
| rs1158327684 | 5:107,521,880 | A/G | — | likely benign |
| rs1458671259 | 5:107,521,888 | T/C | — | uncertain significance |
| rs1348094134 | 5:107,559,826 | G/A | — | uncertain significance |
| rs112049764 | 5:107,559,915 | T/C | — | benign |
| rs56044682 | 5:107,560,769 | C/T | intron variant | — |
| rs552690895 | 5:107,570,359 | G/A | — | — |
| rs10071595 | 5:107,622,552 | C/T | — | — |
| rs71592749 | 5:107,657,999 | C/T | — | — |
| rs1747418188 | 5:107,684,117 | T/C | — | uncertain significance |
| rs4438862 | 5:107,691,083 | A/G | intron variant | — |
| rs746420499 | 5:107,698,416 | T/G | — | — |
| rs1748554256 | 5:107,700,473 | T/C | — | uncertain significance |
| rs568048211 | 5:107,700,522 | T/A | — | uncertain significance |
| rs752074523 | 5:107,700,613 | A/G | — | likely benign |
| rs1828457 | 5:107,700,910 | T/G | intron variant | — |
| rs941200759 | 5:107,703,590 | C/A | — | uncertain significance |
| rs1749790282 | 5:107,716,435 | C/T | — | uncertain significance |
| rs1460138112 | 5:107,716,473 | G/A | — | uncertain significance |
| rs2112670712 | 5:107,716,487 | C/G | — | uncertain significance |
| rs1009714152 | 5:107,716,523 | C/G | — | uncertain significance |
| rs1470977247 | 5:107,716,527 | G/T | — | uncertain significance |
| rs1319781285 | 5:107,716,552 | C/G | — | uncertain significance |
| rs1206839692 | 5:107,716,555 | G/C | — | uncertain significance |
| rs1259776236 | 5:107,716,578 | G/A | — | uncertain significance |
| rs1191985921 | 5:107,716,588 | C/A | — | uncertain significance |
| rs1749823747 | 5:107,716,612 | G/A | — | uncertain significance |
| rs913550390 | 5:107,716,630 | G/A | — | uncertain significance |
| rs1749830123 | 5:107,716,638 | T/C | — | uncertain significance |
| rs551111236 | 5:107,716,668 | G/A | — | uncertain significance |
| rs1416235233 | 5:107,716,674 | G/T | — | uncertain significance |
| rs1749844302 | 5:107,716,705 | C/G | — | uncertain significance |
| rs1020726264 | 5:107,716,717 | C/T | — | uncertain significance |
| rs878856406 | 5:107,716,735 | A/C | — | uncertain significance |
| rs1193356607 | 5:107,716,741 | C/A | — | uncertain significance |
| rs1175168333 | 5:107,716,749 | C/T | — | uncertain significance |
| rs1048266509 | 5:107,716,818 | G/A | — | uncertain significance |
| rs950157632 | 5:107,716,824 | G/A | — | uncertain significance |
| rs1305939801 | 5:107,716,860 | A/T | — | uncertain significance |
| rs747623295 | 5:107,716,876 | G/A | — | uncertain significance |
| rs1287108476 | 5:107,716,896 | G/A | — | uncertain significance |
| rs1749893889 | 5:107,717,008 | C/A | — | uncertain significance |
| rs566797903 | 5:107,717,088 | C/T | — | benign |
| rs1182357164 | 5:107,717,112 | G/A | — | uncertain significance |
| rs936699955 | 5:107,717,113 | C/A | — | uncertain significance |
| rs2532432879 | 5:107,717,125 | C/T | — | uncertain significance |
| rs1345231998 | 5:107,717,128 | C/G | — | uncertain significance |
| rs1410919482 | 5:107,717,134 | G/A | — | uncertain significance |
| rs1206369434 | 5:107,717,176 | G/A | — | uncertain significance |
| rs1329843234 | 5:107,717,217 | C/T | — | uncertain significance |
| rs1749930756 | 5:107,717,227 | G/A | — | uncertain significance |
| rs1027754546 | 5:107,717,245 | T/C | — | uncertain significance |
| rs963953414 | 5:107,717,252 | C/T | — | likely benign |
| rs754258862 | 5:107,717,269 | G/C | — | uncertain significance |
| rs1561572034 | 5:107,717,302 | G/A | — | uncertain significance |
| rs1245288019 | 5:107,717,320 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.