FBXO7

F-box protein 7

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 and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]

Known Variants355 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs140199008	22:32,870,421	G/A	—	likely benign
rs3761435	22:32,870,574	A/G	—	benign
rs181069846	22:32,870,587	T/C	—	likely benign
rs2072813	22:32,870,661	T/C	—	benign
rs540551581	22:32,870,722	C/G	—	uncertain significance
rs886057414	22:32,870,758	G/C	—	uncertain significance
rs2072814	22:32,870,769	C/T	—	benign
rs886057415	22:32,870,790	G/A	—	uncertain significance
rs886057416	22:32,870,793	C/T	—	uncertain significance
rs11538371	22:32,870,806	C/T	—	benign
rs886057417	22:32,870,822	A/G	—	uncertain significance
rs1399012413	22:32,870,860	C/T	—	uncertain significance
rs886057418	22:32,870,872	T/G	—	uncertain significance
rs531209490	22:32,870,893	C/T	—	uncertain significance
rs886057419	22:32,870,897	G/A	—	uncertain significance
rs753392528	22:32,870,990	A/G	—	pathogenic
rs945794813	22:32,870,991	T/G	—	pathogenic
rs1445305869	22:32,870,993	A/C	—	likely benign
rs771566237	22:32,871,008	C/G	—	uncertain significance
rs770465449	22:32,871,018	G/A	—	uncertain significance
rs1394756502	22:32,871,019	G/A	—	likely benign
rs1233525301	22:32,871,021	C/T	—	uncertain significance
rs1315299761	22:32,871,022	C/T	—	likely benign
rs1411850391	22:32,871,029	C/T	—	likely benign
rs2544651046	22:32,871,030	T/G	—	uncertain significance
rs1470531746	22:32,871,034	G/A	—	likely benign
rs776121022	22:32,871,037	G/A	—	likely benign
rs886057420	22:32,871,038	C/G	—	uncertain significance
rs1412416225	22:32,871,041	G/A	—	uncertain significance
rs121918305	22:32,871,054	C/T	missense variant	pathogenic
rs2057417279	22:32,871,061	G/A	—	likely benign
rs2544651118	22:32,871,073	G/A	—	likely benign
rs1439686977	22:32,871,079	G/A	—	likely benign
rs1481064018	22:32,871,089	C/T	—	likely benign
rs773027248	22:32,871,099	C/G	—	likely benign
rs1315592404	22:32,871,103	G/C	—	uncertain significance
rs2544651204	22:32,871,106	G/T	—	likely benign
rs2544651213	22:32,871,109	C/T	—	likely benign
rs2544651221	22:32,871,114	A/G	—	uncertain significance
rs192327462	22:32,871,120	G/A	—	conflicting classifications of pathogenicity
rs1305664313	22:32,871,121	G/T	—	likely benign
rs944559473	22:32,871,124	C/T	—	likely benign
rs1369333964	22:32,871,125	G/C	—	likely benign
rs2544651255	22:32,871,127	G/A	—	likely benign
rs1258057988	22:32,871,128	G/A	—	likely benign
rs8136485	22:32,871,227	C/T	—	benign
rs11703157	22:32,871,230	G/T	—	benign
rs199636063	22:32,871,356	G/A	—	likely benign
rs9621461	22:32,871,365	G/A	—	benign
rs8137714	22:32,871,383	T/G	—	benign
rs8140067	22:32,871,442	C/A	—	benign
rs117106070	22:32,871,454	C/G	—	likely benign
rs150339020	22:32,871,493	G/A	—	likely benign
rs79971293	22:32,871,666	A/G	—	likely benign
rs5749445	22:32,872,258	A/T	—	—
rs2142718	22:32,873,127	G/C	intron variant	—
rs738264	22:32,874,258	G/T	intron variant	—
rs738265	22:32,874,449	G/A	intron variant	—
rs747086405	22:32,874,948	T/C	—	likely benign
rs2544654779	22:32,874,956	C/T	—	likely benign
rs200664364	22:32,874,958	T/G	—	likely benign
rs775290396	22:32,874,972	A/G	—	uncertain significance
rs762999184	22:32,874,976	C/A	—	uncertain significance
rs1370252127	22:32,874,978	C/T	—	pathogenic
rs1568971962	22:32,874,980	A/G	—	likely benign
rs761378962	22:32,874,991	C/A	—	uncertain significance
rs550610502	22:32,875,000	A/G	—	likely benign
rs1431512432	22:32,875,001	C/G	—	pathogenic
rs760306475	22:32,875,014	A/G	—	uncertain significance
rs2544654882	22:32,875,019	A/C	—	likely benign
rs2057446436	22:32,875,030	C/A	—	uncertain significance
rs1203923753	22:32,875,040	A/G	—	likely benign
rs149180516	22:32,875,058	G/A	—	likely benign
rs1419561803	22:32,875,094	A/G	—	likely benign
rs201729077	22:32,875,096	C/T	—	uncertain significance
rs572633515	22:32,875,097	G/A	—	likely benign
rs759929611	22:32,875,101	A/G	—	uncertain significance
rs780055842	22:32,875,105	T/C	—	uncertain significance
rs139135860	22:32,875,119	G/C	—	uncertain significance
rs143041875	22:32,875,122	T/G	—	conflicting classifications of pathogenicity
rs771482489	22:32,875,129	A/T	—	uncertain significance
rs369892815	22:32,875,136	A/C	—	likely benign
rs373293691	22:32,875,148	T/C	—	likely benign
rs905363046	22:32,875,151	G/A	—	likely benign
rs138222812	22:32,875,164	G/A	—	likely benign
rs564650251	22:32,875,175	C/T	—	likely benign
rs11107	22:32,875,190	G/C	—	likely benign
rs2544655172	22:32,875,194	G/T	—	uncertain significance
rs748046325	22:32,875,199	A/G	—	likely benign
rs191469599	22:32,875,203	C/T	—	uncertain significance
rs772662803	22:32,875,209	G/A	—	uncertain significance
rs2057448381	22:32,875,212	T/G	—	uncertain significance
rs2544655220	22:32,875,223	A/G	—	likely benign
rs2544655233	22:32,875,229	A/G	—	likely benign
rs1248147111	22:32,875,238	T/C	—	likely benign
rs770619083	22:32,875,245	T/G	—	uncertain significance
rs2544655320	22:32,875,248	A/T	—	uncertain significance
rs776288097	22:32,875,253	C/T	—	likely benign
rs2544655355	22:32,875,256	C/T	—	likely benign
rs1328219815	22:32,875,269	A/G	—	likely benign

Showing 100 of 355 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.