TUB

TUB bipartite transcription factor

Summary

This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants438 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs61327861	11:8,040,323	G/A	upstream gene variant	—
rs80078453	11:8,046,881	C/T	regulatory region variant	—
rs149013553	11:8,049,251	G/A	intron variant	—
rs55635402	11:8,056,913	A/G	upstream gene variant	—
rs931180847	11:8,060,420	G/A	—	likely benign
rs1425858617	11:8,060,421	A/T	—	uncertain significance
rs2133727461	11:8,060,423	G/T	—	uncertain significance
rs777880271	11:8,060,424	G/A	—	uncertain significance
rs535436275	11:8,060,427	G/A	—	uncertain significance
rs746373998	11:8,060,458	C/T	—	uncertain significance
rs185749309	11:8,060,468	C/T	—	likely benign
rs144469939	11:8,060,469	G/A	—	uncertain significance
rs1942692795	11:8,060,472	A/G	—	uncertain significance
rs147860705	11:8,060,483	G/A	—	likely benign
rs769370706	11:8,060,488	C/T	—	uncertain significance
rs748551548	11:8,060,493	G/C	—	uncertain significance
rs2495544726	11:8,060,501	C/T	—	likely benign
rs928335500	11:8,060,503	G/C	—	uncertain significance
rs2133727717	11:8,060,505	C/T	—	uncertain significance
rs1942693454	11:8,060,507	C/A	—	likely benign
rs774373147	11:8,060,508	A/G	—	uncertain significance
rs1196546434	11:8,060,509	T/C	—	uncertain significance
rs759607555	11:8,060,510	G/T	—	uncertain significance
rs2495544790	11:8,060,517	C/T	—	uncertain significance
rs1942693929	11:8,060,525	A/T	—	likely benign
rs760931243	11:8,060,530	A/G	—	uncertain significance
rs2133727829	11:8,060,542	C/T	—	uncertain significance
rs375735347	11:8,060,547	C/T	—	uncertain significance
rs1942694856	11:8,060,549	C/T	—	likely benign
rs139435715	11:8,060,556	C/T	—	uncertain significance
rs747380073	11:8,060,557	G/A	—	uncertain significance
rs769088023	11:8,060,559	G/A	—	association
rs200417768	11:8,060,565	C/T	—	uncertain significance
rs55648406	11:8,060,566	G/A	—	benign
rs150936269	11:8,060,574	C/T	—	uncertain significance
rs140759109	11:8,060,575	G/A	—	uncertain significance
rs2495545200	11:8,060,578	A/G	—	uncertain significance
rs371516714	11:8,060,586	A/C	—	likely benign
rs373215632	11:8,061,181	T/C	—	likely benign
rs746976650	11:8,061,183	C/T	—	likely benign
rs374905053	11:8,061,193	A/G	—	uncertain significance
rs537859744	11:8,061,197	C/A	—	uncertain significance
rs765491658	11:8,061,198	A/G	—	likely benign
rs773444306	11:8,061,201	C/T	—	uncertain significance
rs200317345	11:8,061,202	A/G	—	uncertain significance
rs776886619	11:8,061,207	G/A	—	likely benign
rs199688428	11:8,061,211	T/C	—	uncertain significance
rs2133730073	11:8,061,213	C/T	—	likely benign
rs1942711024	11:8,061,216	G/A	—	uncertain significance
rs75997657	11:8,061,219	G/A	—	benign
rs755575998	11:8,061,222	A/T	—	uncertain significance
rs17847539	11:8,061,231	A/G	—	benign
rs2495548882	11:8,061,232	A/G	—	uncertain significance
rs1449149039	11:8,061,234	C/T	—	likely benign
rs369256996	11:8,061,235	G/A	—	uncertain significance
rs778672572	11:8,061,238	C/T	—	uncertain significance
rs745541617	11:8,061,239	G/A	—	uncertain significance
rs2133730214	11:8,061,241	T/C	—	uncertain significance
rs2133730232	11:8,061,247	G/T	—	likely benign
rs779668139	11:8,061,259	G/A	—	likely benign
rs1195810655	11:8,103,053	G/A	—	likely benign
rs780206835	11:8,103,076	T/G	—	uncertain significance
rs1439356965	11:8,103,101	C/T	—	likely benign
rs186574292	11:8,104,048	T/C	regulatory region variant	—
rs2539196887	11:8,111,137	A/T	—	likely benign
rs766983454	11:8,111,140	C/G	—	likely benign
rs376106107	11:8,111,147	C/T	—	likely benign
rs202230011	11:8,111,148	G/A	—	likely benign
rs372377451	11:8,111,149	C/A	—	likely benign
rs375658002	11:8,111,153	G/T	—	likely benign
rs2133832163	11:8,111,162	T/C	—	uncertain significance
rs369739225	11:8,111,167	G/C	—	uncertain significance
rs1943733263	11:8,111,169	T/C	—	likely benign
rs557066008	11:8,111,170	G/A	—	uncertain significance
rs773606220	11:8,111,175	C/T	—	likely benign
rs2539197230	11:8,111,189	A/G	—	uncertain significance
rs61733960	11:8,111,196	G/C	—	uncertain significance
rs2539197262	11:8,111,197	C/T	—	uncertain significance
rs2133832270	11:8,111,201	A/G	—	uncertain significance
rs139035034	11:8,111,203	C/T	—	uncertain significance
rs1943734013	11:8,111,211	G/A	—	uncertain significance
rs1943734204	11:8,111,222	G/T	—	likely benign
rs200034380	11:8,111,227	G/A	—	likely benign
rs2272382	11:8,111,540	T/A	—	—
rs2133833453	11:8,111,602	C/T	—	likely benign
rs539616172	11:8,111,609	T/C	—	likely benign
rs761784462	11:8,111,612	A/G	—	likely benign
rs765032093	11:8,111,617	G/A	—	uncertain significance
rs2133833549	11:8,111,630	G/A	—	likely benign
rs750419936	11:8,111,635	A/T	—	uncertain significance
rs758202170	11:8,111,636	G/A	—	likely benign
rs61733961	11:8,111,639	G/A	—	benign
rs533066502	11:8,111,646	A/C	—	uncertain significance
rs200364214	11:8,111,648	G/A	—	likely benign
rs2539198867	11:8,111,672	G/A	—	likely benign
rs145623562	11:8,111,674	C/T	—	uncertain significance
rs779313406	11:8,111,675	C/A	—	likely benign
rs375580665	11:8,111,682	G/T	—	uncertain significance
rs368970627	11:8,111,688	C/T	—	uncertain significance
rs371844684	11:8,111,689	G/A	—	uncertain significance

Showing 100 of 438 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.