FBXO28
F-box protein 28
Summary
Members of the F-box protein family, such as FBXO28, 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 Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201043643 | 1:224,301,831 | G/C | — | likely benign |
| rs1656582279 | 1:224,301,845 | C/G | — | uncertain significance |
| rs1352114760 | 1:224,301,851 | A/T | — | uncertain significance |
| rs143831581 | 1:224,301,853 | C/A | — | likely benign |
| rs935447656 | 1:224,301,875 | G/C | — | uncertain significance |
| rs1427569686 | 1:224,301,893 | G/A | — | uncertain significance |
| rs771816273 | 1:224,301,917 | C/G | — | uncertain significance |
| rs2102604513 | 1:224,301,928 | C/T | — | uncertain significance |
| rs2102604634 | 1:224,302,022 | T/G | — | pathogenic |
| rs2527105814 | 1:224,302,082 | T/C | — | uncertain significance |
| rs772433559 | 1:224,302,089 | G/C | — | uncertain significance |
| rs2048997 | 1:224,305,486 | G/C | — | — |
| rs10799478 | 1:224,305,966 | A/T | intron variant | — |
| rs1336704123 | 1:224,321,796 | A/G | — | uncertain significance |
| rs2527150202 | 1:224,321,918 | A/T | — | uncertain significance |
| rs145711419 | 1:224,339,832 | T/C | intron variant | — |
| rs139725915 | 1:224,340,863 | G/A | — | uncertain significance |
| rs2527197379 | 1:224,340,880 | A/G | — | uncertain significance |
| rs199672778 | 1:224,340,881 | A/G | — | uncertain significance |
| rs2527197419 | 1:224,340,896 | C/T | — | uncertain significance |
| rs1334112369 | 1:224,340,970 | A/G | — | uncertain significance |
| rs2102635097 | 1:224,341,030 | T/C | — | uncertain significance |
| rs1471911274 | 1:224,341,031 | C/G | — | uncertain significance |
| rs149442137 | 1:224,341,036 | C/T | — | likely benign |
| rs7520956 | 1:224,341,924 | T/C | — | — |
| rs189250147 | 1:224,345,067 | T/C | — | likely benign |
| rs1023471990 | 1:224,345,173 | C/A | — | uncertain significance |
| rs761294837 | 1:224,345,180 | G/A | — | uncertain significance |
| rs201363916 | 1:224,345,351 | G/A | — | uncertain significance |
| rs2527209653 | 1:224,345,374 | C/T | — | uncertain significance |
| rs2102638590 | 1:224,345,383 | C/G | — | pathogenic |
| rs1553292987 | 1:224,345,384 | G/T | — | likely pathogenic |
| rs143381946 | 1:224,345,397 | G/C | — | likely benign |
| rs2102638631 | 1:224,345,419 | A/T | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.