TRIP11

thyroid hormone receptor interactor 11

Summary

This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]

Known Variants732 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11848512	14:92,434,273	C/T	—	benign
rs2056357809	14:92,434,426	C/A	—	uncertain significance
rs11848545	14:92,434,463	A/T	—	benign
rs187716047	14:92,434,496	C/T	—	uncertain significance
rs74801826	14:92,434,643	T/G	—	benign
rs143185383	14:92,434,723	T/C	—	uncertain significance
rs2056361212	14:92,434,805	G/A	—	uncertain significance
rs886050894	14:92,434,823	T/C	—	uncertain significance
rs1424828686	14:92,434,832	C/T	—	uncertain significance
rs1439636951	14:92,434,842	G/C	—	uncertain significance
rs10142576	14:92,434,957	G/A	—	benign
rs1133441	14:92,435,065	T/A	—	benign
rs759610969	14:92,435,079	T/C	—	uncertain significance
rs74071653	14:92,435,087	G/A	—	benign
rs886050895	14:92,435,113	T/C	—	uncertain significance
rs886050896	14:92,435,126	T/C	—	uncertain significance
rs368630607	14:92,435,177	T/C	—	uncertain significance
rs150189603	14:92,435,268	C/T	—	benign
rs138892598	14:92,435,353	G/A	—	benign
rs886050897	14:92,435,389	G/A	—	uncertain significance
rs111671120	14:92,435,407	T/G	—	benign
rs528182792	14:92,435,473	G/A	—	uncertain significance
rs886050898	14:92,435,526	T/G	—	uncertain significance
rs12587248	14:92,435,587	C/T	—	benign
rs886050899	14:92,435,608	T/C	—	uncertain significance
rs375437590	14:92,435,630	G/T	—	benign
rs886050900	14:92,435,633	T/A	—	uncertain significance
rs886050902	14:92,435,655	G/C	—	uncertain significance
rs17127786	14:92,435,672	A/G	—	benign
rs565776732	14:92,435,705	T/C	—	uncertain significance
rs1266688652	14:92,435,720	T/C	—	uncertain significance
rs189206458	14:92,435,727	T/C	—	likely benign
rs61988386	14:92,435,729	T/G	—	likely benign
rs978962806	14:92,435,744	T/G	—	uncertain significance
rs111335604	14:92,435,771	T/C	—	benign
rs142907939	14:92,435,854	G/A	—	likely benign
rs1318449538	14:92,435,855	C/A	—	uncertain significance
rs778402674	14:92,435,910	G/A	—	uncertain significance
rs144403505	14:92,435,917	T/C	—	uncertain significance
rs373269085	14:92,436,008	G/C	—	uncertain significance
rs762368847	14:92,436,020	T/C	—	uncertain significance
rs151317471	14:92,436,035	T/C	—	likely benign
rs113605039	14:92,436,057	T/C	—	uncertain significance
rs1241223372	14:92,436,064	G/C	—	uncertain significance
rs142075650	14:92,436,068	C/T	—	conflicting classifications of pathogenicity
rs2056377613	14:92,436,069	G/A	—	uncertain significance
rs61742059	14:92,436,070	C/T	—	conflicting classifications of pathogenicity
rs1566840737	14:92,436,072	G/A	—	uncertain significance
rs755570677	14:92,436,119	A/G	—	likely benign
rs748903681	14:92,436,128	G/A	—	conflicting classifications of pathogenicity
rs1458755578	14:92,436,139	G/T	—	uncertain significance
rs748645116	14:92,436,146	T/G	—	conflicting classifications of pathogenicity
rs1465680661	14:92,436,152	T/C	—	likely benign
rs3742719	14:92,436,176	C/T	—	benign
rs137938779	14:92,436,180	C/T	—	uncertain significance
rs201962758	14:92,436,181	G/A	—	uncertain significance
rs368950450	14:92,436,195	G/A	—	uncertain significance
rs1326393815	14:92,436,203	A/G	—	likely benign
rs370052334	14:92,436,228	T/A	—	uncertain significance
rs189330326	14:92,436,242	A/C	—	uncertain significance
rs115760606	14:92,436,263	C/T	—	likely benign
rs151141985	14:92,436,310	T/C	—	likely benign
rs57710923	14:92,436,413	T/C	—	benign
rs59369573	14:92,436,516	T/C	—	benign
rs112400543	14:92,436,526	A/G	—	likely benign
rs11160033	14:92,436,580	A/G	—	benign
rs2295162	14:92,438,747	A/G	—	benign
rs77189840	14:92,438,800	G/T	—	likely benign
rs76152680	14:92,438,801	A/T	—	likely benign
rs79221040	14:92,438,880	G/A	—	likely benign
rs2542954152	14:92,439,048	T/A	—	likely benign
rs199736345	14:92,439,059	A/G	—	uncertain significance
rs536357760	14:92,439,117	G/A	—	uncertain significance
rs143392370	14:92,439,123	A/G	—	uncertain significance
rs74071672	14:92,439,129	T/C	—	likely benign
rs371689436	14:92,439,135	G/T	—	uncertain significance
rs772959811	14:92,439,143	T/C	—	likely benign
rs766363206	14:92,439,150	G/A	—	uncertain significance
rs148261539	14:92,439,151	G/T	—	conflicting classifications of pathogenicity
rs764596712	14:92,439,173	T/C	—	conflicting classifications of pathogenicity
rs1314677608	14:92,439,206	C/T	—	likely pathogenic
rs76615763	14:92,439,269	A/C	—	likely benign
rs140534772	14:92,439,408	C/T	—	likely benign
rs145621194	14:92,439,428	G/A	—	likely benign
rs2295163	14:92,439,455	C/T	—	benign
rs58692023	14:92,439,526	C/T	—	likely benign
rs74071674	14:92,440,739	T/C	—	likely benign
rs73341732	14:92,440,753	C/T	—	likely benign
rs71430745	14:92,440,885	T/A	—	benign
rs76321048	14:92,440,886	A/T	—	benign
rs74071676	14:92,440,906	G/C	—	benign
rs74071677	14:92,440,947	A/G	—	benign
rs561150244	14:92,440,952	G/T	—	conflicting classifications of pathogenicity
rs369316409	14:92,440,974	A/G	—	conflicting classifications of pathogenicity
rs775104777	14:92,440,977	A/T	—	likely benign
rs1303998008	14:92,440,979	C/T	—	uncertain significance
rs1006565011	14:92,440,990	T/C	—	uncertain significance
rs547695005	14:92,440,996	G/A	—	likely benign
rs141259390	14:92,441,008	G/A	—	conflicting classifications of pathogenicity
rs753937666	14:92,441,015	G/C	—	uncertain significance

Showing 100 of 732 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.