TBCE

tubulin folding cofactor E

Summary

Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants434 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs114193373	1:235,530,758	T/A	—	likely benign
rs886046147	1:235,530,759	C/G	—	uncertain significance
rs754235694	1:235,530,783	G/C	—	uncertain significance
rs55980101	1:235,530,802	T/C	—	benign
rs181444373	1:235,532,841	A/C	intron variant	—
rs10737818	1:235,542,023	A/C	—	—
rs145854901	1:235,543,366	T/A	—	uncertain significance
rs368602534	1:235,543,371	G/T	—	uncertain significance
rs200382427	1:235,543,385	G/A	—	likely benign
rs760473258	1:235,543,397	T/C	—	likely benign
rs201164091	1:235,543,399	G/A	—	uncertain significance
rs577563620	1:235,543,415	T/C	—	likely benign
rs2528380688	1:235,543,422	C/T	—	uncertain significance
rs750637765	1:235,543,434	C/T	—	uncertain significance
rs766386026	1:235,543,435	G/A	—	uncertain significance
rs1677534261	1:235,543,439	T/C	—	likely benign
rs1293879711	1:235,543,447	T/G	—	uncertain significance
rs751679100	1:235,543,453	C/T	—	uncertain significance
rs1266066372	1:235,543,457	C/G	—	likely benign
rs200356271	1:235,543,465	G/A	—	pathogenic
rs182896657	1:235,543,470	C/T	—	uncertain significance
rs199696216	1:235,543,477	T/G	—	likely benign
rs886046149	1:235,543,479	T/G	—	conflicting classifications of pathogenicity
rs1256281643	1:235,543,481	T/G	—	likely benign
rs1294092411	1:235,543,483	T/G	—	likely benign
rs2526865806	1:235,564,799	G/T	—	likely benign
rs1248058751	1:235,564,811	C/T	—	likely benign
rs113829976	1:235,564,813	G/A	—	likely benign
rs2102857548	1:235,564,816	A/G	—	conflicting classifications of pathogenicity
rs1188106799	1:235,564,817	G/C	—	likely pathogenic
rs1283368278	1:235,564,818	G/C	—	likely pathogenic
rs774474110	1:235,564,822	C/T	—	likely benign
rs199888401	1:235,564,850	G/A	—	conflicting classifications of pathogenicity
rs1275010951	1:235,564,852	G/C	—	uncertain significance
rs758937799	1:235,564,860	—	—	pathogenic
rs764497359	1:235,564,864	T/C	—	likely benign
rs1344821328	1:235,564,867	T/C	—	likely benign
rs2102857663	1:235,564,872	G/A	—	uncertain significance
rs2526866270	1:235,564,874	C/T	—	uncertain significance
rs754279473	1:235,564,876	C/T	—	conflicting classifications of pathogenicity
rs1416494325	1:235,564,882	G/A	—	likely benign
rs2526866613	1:235,564,914	T/G	—	likely benign
rs2526866638	1:235,564,920	A/G	—	likely benign
rs17543709	1:235,564,924	T/G	—	benign
rs4469707	1:235,570,634	T/A	—	—
rs2526937866	1:235,577,733	G/A	—	likely benign
rs962538726	1:235,577,744	C/T	—	likely benign
rs2526937956	1:235,577,746	A/G	—	likely pathogenic
rs1344720787	1:235,577,751	C/T	—	likely benign
rs1437328895	1:235,577,752	C/T	—	uncertain significance
rs147489278	1:235,577,753	C/T	—	likely benign
rs544392141	1:235,577,754	G/T	—	likely benign
rs144747353	1:235,577,756	C/A	—	conflicting classifications of pathogenicity
rs2526938063	1:235,577,760	A/G	—	likely benign
rs746047750	1:235,577,763	A/C	—	likely benign
rs376459211	1:235,577,773	C/T	—	uncertain significance
rs775857834	1:235,577,774	G/A	—	uncertain significance
rs62620041	1:235,577,776	C/T	—	likely benign
rs768907207	1:235,577,777	C/T	—	uncertain significance
rs777273223	1:235,577,778	G/C	—	likely benign
rs2526938162	1:235,577,781	C/T	—	likely benign
rs542328397	1:235,577,806	C/A	—	uncertain significance
rs759184659	1:235,577,808	T/G	—	likely benign
rs752392215	1:235,577,813	C/T	—	uncertain significance
rs755605311	1:235,577,814	A/T	—	likely benign
rs143886167	1:235,577,815	A/G	—	conflicting classifications of pathogenicity
rs926114526	1:235,577,822	A/C	—	uncertain significance
rs200422130	1:235,577,824	C/T	—	uncertain significance
rs148616786	1:235,577,843	G/A	—	likely benign
rs1680003307	1:235,577,844	A/T	—	likely benign
rs370008855	1:235,577,847	A/G	—	likely benign
rs1185430377	1:235,577,856	T/C	—	likely benign
rs1200943793	1:235,577,868	A/G	—	likely benign
rs1162828786	1:235,577,871	T/G	—	uncertain significance
rs1466464867	1:235,577,892	T/C	—	likely benign
rs1553336397	1:235,577,894	T/G	—	likely pathogenic
rs1558372993	1:235,577,896	G/A	—	uncertain significance
rs752345424	1:235,577,904	C/T	—	likely benign
rs889788311	1:235,577,913	C/T	—	likely benign
rs2526938900	1:235,577,915	C/G	—	uncertain significance
rs757180287	1:235,577,921	T/G	—	uncertain significance
rs377061675	1:235,577,934	G/A	—	likely pathogenic
rs1680011412	1:235,577,935	T/A	—	likely pathogenic
rs758116359	1:235,577,944	T/A	—	likely benign
rs181184466	1:235,577,951	C/T	—	likely benign
rs201960056	1:235,577,952	G/A	—	likely benign
rs149588837	1:235,582,388	A/G	—	likely benign
rs4659860	1:235,582,460	T/C	—	benign
rs113609735	1:235,582,543	C/T	—	benign
rs766225659	1:235,582,775	G/T	—	likely benign
rs931651997	1:235,582,778	T/C	—	likely benign
rs751430338	1:235,582,782	A/G	—	likely benign
rs2526961175	1:235,582,783	T/C	—	likely benign
rs903796415	1:235,582,789	C/T	—	pathogenic
rs778298339	1:235,582,794	G/C	—	likely benign
rs756141053	1:235,582,800	G/A	—	likely benign
rs144448831	1:235,582,810	G/A	—	conflicting classifications of pathogenicity
rs1680277367	1:235,582,812	T/C	—	likely benign
rs2526961411	1:235,582,815	T/C	—	likely benign
rs141117231	1:235,582,819	A/C	—	likely benign

Showing 100 of 434 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.