FBXO3

F-box 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 the 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 Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. [provided by RefSeq, Jul 2008]

Known Variants18 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs138194845	11:33,763,464	C/G	—	uncertain significance
rs754092374	11:33,763,474	G/A	—	uncertain significance
rs149595704	11:33,763,476	C/T	—	uncertain significance
rs983367744	11:33,763,549	C/G	—	uncertain significance
rs768286240	11:33,768,722	C/T	—	uncertain significance
rs2495543442	11:33,768,731	G/A	—	uncertain significance
rs752650063	11:33,768,844	T/C	—	likely benign
rs939056326	11:33,772,185	C/T	—	uncertain significance
rs751855449	11:33,773,091	T/G	—	uncertain significance
rs1402954	11:33,777,334	C/T	—	benign
rs2495565581	11:33,777,486	C/T	—	uncertain significance
rs760270591	11:33,780,128	G/A	—	likely benign
rs7116243	11:33,781,889	G/A	intron variant	—
rs757358495	11:33,790,504	G/C	—	uncertain significance
rs2495592411	11:33,790,540	T/A	—	uncertain significance
rs2495603855	11:33,795,953	G/A	—	uncertain significance
rs1276371708	11:33,796,018	G/C	—	uncertain significance
rs1043211813	11:33,796,033	A/G	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.