FBXO43
F-box protein 43
Summary
Members of the F-box protein family, such as FBXO43, 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 Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs202056051 | 8:101,146,049 | C/T | — | uncertain significance |
| rs954702094 | 8:101,146,166 | C/T | — | pathogenic |
| rs370561864 | 8:101,146,178 | C/T | — | uncertain significance |
| rs768989830 | 8:101,146,520 | G/A | — | pathogenic |
| rs77680502 | 8:101,146,558 | C/T | — | benign |
| rs373092371 | 8:101,146,592 | C/T | — | uncertain significance |
| rs759048586 | 8:101,149,874 | A/T | — | uncertain significance |
| rs201016433 | 8:101,152,913 | G/C | — | uncertain significance |
| rs199780921 | 8:101,152,928 | G/C | — | likely benign |
| rs2489229858 | 8:101,152,972 | T/C | — | uncertain significance |
| rs1215477131 | 8:101,153,071 | C/T | — | likely benign |
| rs954142586 | 8:101,153,112 | C/A | — | uncertain significance |
| rs373156415 | 8:101,153,143 | G/A | — | uncertain significance |
| rs1223084666 | 8:101,153,204 | C/G | — | uncertain significance |
| rs748943275 | 8:101,153,214 | C/T | — | uncertain significance |
| rs371117490 | 8:101,153,330 | C/T | — | likely benign |
| rs530844525 | 8:101,153,433 | T/C | — | uncertain significance |
| rs373910464 | 8:101,153,437 | A/T | — | uncertain significance |
| rs376577612 | 8:101,153,565 | A/G | — | uncertain significance |
| rs1171227939 | 8:101,153,623 | C/T | — | uncertain significance |
| rs369057548 | 8:101,153,711 | A/C | — | uncertain significance |
| rs2489233877 | 8:101,153,776 | C/T | — | uncertain significance |
| rs2489233939 | 8:101,153,795 | C/A | — | uncertain significance |
| rs373258172 | 8:101,153,800 | A/C | — | uncertain significance |
| rs748362105 | 8:101,153,935 | C/T | — | uncertain significance |
| rs745750597 | 8:101,154,076 | C/T | — | uncertain significance |
| rs553559355 | 8:101,154,163 | G/A | — | uncertain significance |
| rs1421611544 | 8:101,154,168 | T/C | — | uncertain significance |
| rs201306425 | 8:101,154,177 | G/A | — | uncertain significance |
| rs2489236977 | 8:101,154,290 | G/A | — | likely benign |
| rs754320394 | 8:101,154,354 | G/A | — | uncertain significance |
| rs1387007809 | 8:101,157,338 | C/A | — | uncertain significance |
| rs71516858 | 8:101,159,178 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.