FBXL20
F-box and leucine rich repeat protein 20
Summary
Members of the F-box protein family, such as FBXL20, 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 Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3744349 | 17:37,414,842 | C/T | downstream gene variant | — |
| rs11078896 | 17:37,415,544 | C/T | downstream gene variant | — |
| rs754840212 | 17:37,420,483 | C/T | — | uncertain significance |
| rs147520122 | 17:37,420,492 | C/T | — | uncertain significance |
| rs145503840 | 17:37,421,655 | C/T | — | uncertain significance |
| rs776301305 | 17:37,431,322 | C/A | — | uncertain significance |
| rs72823393 | 17:37,433,486 | T/G | intron variant | — |
| rs801429 | 17:37,435,378 | T/C | intron variant | — |
| rs1248756291 | 17:37,437,681 | G/C | — | uncertain significance |
| rs750700672 | 17:37,437,692 | T/C | — | uncertain significance |
| rs532621624 | 17:37,438,986 | G/A | — | uncertain significance |
| rs143474058 | 17:37,439,081 | C/A | — | uncertain significance |
| rs612194 | 17:37,442,707 | T/A | intron variant | — |
| rs683948 | 17:37,447,448 | T/C | intron variant | — |
| rs575086377 | 17:37,455,252 | T/C | — | uncertain significance |
| rs369146709 | 17:37,455,333 | C/T | — | uncertain significance |
| rs801417 | 17:37,458,872 | C/T | intron variant | — |
| rs649180 | 17:37,464,959 | A/C | intron variant | — |
| rs801419 | 17:37,466,327 | A/G | intron variant | — |
| rs9747342 | 17:37,474,196 | C/T | intron variant | — |
| rs8072297 | 17:37,478,048 | A/C | — | — |
| rs10221223 | 17:37,489,100 | T/A | — | — |
| rs146781981 | 17:37,493,598 | C/A | intron variant | — |
| rs371836119 | 17:37,499,434 | G/A | — | uncertain significance |
| rs9916302 | 17:37,499,949 | T/C | intron variant | — |
| rs9894500 | 17:37,515,735 | G/C | regulatory region variant | — |
| rs6503506 | 17:37,524,653 | C/A | intron variant | — |
| rs113414512 | 17:37,535,298 | C/T | intron variant | — |
| rs73293051 | 17:37,535,336 | T/G | — | — |
| rs9899069 | 17:37,540,772 | A/G | intron variant | — |
| rs7208487 | 17:37,543,449 | T/A | — | — |
| rs9892675 | 17:37,549,200 | C/G | — | — |
| rs113825099 | 17:37,553,136 | G/A | upstream gene variant | — |
| rs12600751 | 17:37,553,651 | G/C | upstream gene variant | — |
| rs9905432 | 17:37,555,918 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.