CUL3

cullin 3

Summary

This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

Known Variants369 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs556849083	2:225,334,874	A/G	—	uncertain significance
rs12470077	2:225,334,971	T/C	—	benign
rs187193598	2:225,334,989	A/T	—	benign
rs1691077506	2:225,335,004	G/A	—	uncertain significance
rs1691078689	2:225,335,040	T/C	—	uncertain significance
rs940993118	2:225,335,152	G/A	—	uncertain significance
rs4234054	2:225,335,173	G/A	—	benign
rs886055679	2:225,335,196	C/T	—	uncertain significance
rs558805673	2:225,335,209	A/G	—	conflicting classifications of pathogenicity
rs2396092	2:225,335,290	A/G	3 prime UTR variant	benign
rs374191606	2:225,335,297	A/T	—	conflicting classifications of pathogenicity
rs764772276	2:225,335,366	T/C	—	uncertain significance
rs76433087	2:225,335,499	A/G	—	likely benign
rs886055680	2:225,335,570	T/C	—	uncertain significance
rs4674908	2:225,335,595	A/G	—	benign
rs78383940	2:225,335,806	T/C	—	likely benign
rs17479770	2:225,335,814	C/T	—	benign
rs552216335	2:225,335,828	T/A	—	uncertain significance
rs886055681	2:225,335,866	C/G	—	uncertain significance
rs748865811	2:225,335,936	C/T	—	uncertain significance
rs41529948	2:225,336,017	C/G	—	likely benign
rs73077720	2:225,336,039	T/G	—	likely benign
rs567860520	2:225,336,050	A/G	—	likely benign
rs886055683	2:225,336,094	A/G	—	uncertain significance
rs536790634	2:225,336,099	A/C	—	likely benign
rs772430576	2:225,336,108	T/C	—	uncertain significance
rs1691124781	2:225,336,111	T/G	—	uncertain significance
rs747359530	2:225,336,196	C/G	—	uncertain significance
rs886055684	2:225,336,206	C/T	—	uncertain significance
rs1248975644	2:225,336,273	A/G	—	uncertain significance
rs3768899	2:225,336,309	C/T	—	benign
rs886055685	2:225,336,378	A/G	—	uncertain significance
rs1440895219	2:225,336,409	T/C	—	uncertain significance
rs886055686	2:225,336,493	C/G	—	uncertain significance
rs10498160	2:225,336,531	C/A	—	benign
rs886055687	2:225,336,538	G/A	—	uncertain significance
rs938971844	2:225,336,621	C/G	—	uncertain significance
rs556914502	2:225,336,690	A/G	—	conflicting classifications of pathogenicity
rs886055688	2:225,336,767	T/C	—	uncertain significance
rs73993899	2:225,336,769	C/T	—	benign
rs3768898	2:225,336,770	A/G	—	benign
rs555995940	2:225,336,832	T/C	—	conflicting classifications of pathogenicity
rs886055689	2:225,336,869	T/C	—	uncertain significance
rs10498161	2:225,336,889	T/C	—	benign
rs185186023	2:225,336,954	C/A	—	uncertain significance
rs890153682	2:225,337,019	T/A	—	uncertain significance
rs190478338	2:225,337,079	A/G	—	uncertain significance
rs140669610	2:225,337,090	C/G	—	likely benign
rs13016316	2:225,337,188	C/A	—	benign
rs886055690	2:225,337,444	T/A	—	uncertain significance
rs886055691	2:225,337,456	C/T	—	uncertain significance
rs886055692	2:225,337,464	G/C	—	uncertain significance
rs79297951	2:225,337,479	G/C	—	likely benign
rs575153722	2:225,337,559	T/G	—	likely benign
rs3768897	2:225,338,022	G/A	—	benign
rs760530227	2:225,338,047	T/C	—	uncertain significance
rs764172604	2:225,338,057	T/C	—	uncertain significance
rs141660429	2:225,338,066	C/G	—	likely benign
rs980398909	2:225,338,172	A/C	—	uncertain significance
rs1224616813	2:225,338,178	C/T	—	uncertain significance
rs926333413	2:225,338,180	C/A	—	uncertain significance
rs531395316	2:225,338,226	T/C	—	uncertain significance
rs147054027	2:225,338,293	A/G	—	benign
rs778642011	2:225,338,298	A/C	—	uncertain significance
rs886055693	2:225,338,417	T/C	—	uncertain significance
rs1407928300	2:225,338,422	C/T	—	uncertain significance
rs1171555841	2:225,338,435	T/C	—	uncertain significance
rs1691214301	2:225,338,463	A/G	—	uncertain significance
rs1691214384	2:225,338,466	T/A	—	uncertain significance
rs532967850	2:225,338,668	T/C	—	conflicting classifications of pathogenicity
rs886055694	2:225,338,755	C/T	—	uncertain significance
rs186807043	2:225,338,838	G/A	—	benign
rs192166927	2:225,338,873	T/A	—	conflicting classifications of pathogenicity
rs968196250	2:225,338,878	G/A	—	uncertain significance
rs2106132875	2:225,338,976	T/C	—	uncertain significance
rs761790580	2:225,338,984	T/C	—	uncertain significance
rs759758641	2:225,338,988	G/A	—	uncertain significance
rs2106133123	2:225,339,002	C/T	—	uncertain significance
rs765501841	2:225,339,003	G/A	—	conflicting classifications of pathogenicity
rs1237148190	2:225,339,004	T/C	—	likely benign
rs1559332999	2:225,339,023	A/G	—	likely pathogenic
rs2106133454	2:225,339,038	C/T	—	uncertain significance
rs778175467	2:225,339,047	A/G	—	uncertain significance
rs752027394	2:225,339,055	T/C	—	likely benign
rs1050340034	2:225,339,061	T/G	—	likely benign
rs551278501	2:225,339,073	C/T	—	likely benign
rs745316138	2:225,339,074	G/A	—	uncertain significance
rs764008735	2:225,339,113	G/C	—	likely benign
rs1568750	2:225,342,597	A/T	—	benign
rs1691394055	2:225,342,916	C/G	—	likely pathogenic
rs536959466	2:225,342,920	C/T	—	likely benign
rs1378177790	2:225,342,928	G/C	—	uncertain significance
rs2106142737	2:225,342,954	G/C	—	uncertain significance
rs2106142894	2:225,342,972	A/G	—	uncertain significance
rs886055695	2:225,342,990	T/A	—	conflicting classifications of pathogenicity
rs371342121	2:225,343,000	C/T	—	uncertain significance
rs374533358	2:225,343,004	G/A	—	likely benign
rs61743301	2:225,343,040	G/A	—	likely benign
rs1333305541	2:225,343,048	C/T	—	uncertain significance
rs2106143643	2:225,343,059	G/A	—	uncertain significance

Showing 100 of 369 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.