MTOR

mechanistic target of rapamycin kinase

Summary

The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]

Known Variants2,196 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2536	1:11,166,713	T/C	downstream gene variant	benign
rs12139042	1:11,167,146	G/A	downstream gene variant	—
rs79536981	1:11,167,479	G/A	—	likely benign
rs143041125	1:11,167,541	G/C	—	benign
rs2100276124	1:11,167,555	C/A	—	uncertain significance
rs772723940	1:11,167,560	A/G	—	benign
rs184177020	1:11,167,569	G/C	—	likely benign
rs1484428493	1:11,167,575	A/C	—	likely benign
rs763361085	1:11,167,598	G/C	—	benign
rs12117235	1:11,167,760	C/T	—	benign
rs12117241	1:11,167,829	C/T	—	benign
rs12117270	1:11,167,910	C/T	—	benign
rs78020860	1:11,168,048	T/A	—	benign
rs3730377	1:11,168,098	A/G	—	likely benign
rs911793788	1:11,168,223	G/A	—	likely benign
rs1570892024	1:11,168,227	G/A	—	likely benign
rs200829838	1:11,168,232	A/G	—	uncertain significance
rs558903607	1:11,168,234	T/C	—	benign
rs2521990370	1:11,168,243	A/G	—	likely benign
rs2100279708	1:11,168,244	A/G	—	uncertain significance
rs1641669834	1:11,168,258	G/A	—	likely benign
rs2521990675	1:11,168,259	A/G	—	uncertain significance
rs748151285	1:11,168,273	T/G	—	likely benign
rs1467623571	1:11,168,276	C/T	—	likely benign
rs771419089	1:11,168,277	G/C	—	uncertain significance
rs149314441	1:11,168,279	T/C	—	benign
rs1641671309	1:11,168,296	C/T	—	uncertain significance
rs377231271	1:11,168,299	C/T	—	uncertain significance
rs2521991279	1:11,168,302	G/A	—	uncertain significance
rs370865586	1:11,168,303	C/T	—	likely benign
rs2521991407	1:11,168,310	A/T	—	uncertain significance
rs529777655	1:11,168,311	C/T	—	uncertain significance
rs1317053902	1:11,168,312	A/G	—	likely benign
rs1264850970	1:11,168,315	C/T	—	likely benign
rs2521991610	1:11,168,327	A/G	—	likely benign
rs370135897	1:11,168,332	A/C	—	benign
rs2100280291	1:11,168,338	C/G	—	uncertain significance
rs1220338719	1:11,168,339	C/T	—	likely benign
rs2100280361	1:11,168,343	C/A	—	conflicting classifications of pathogenicity
rs1641674442	1:11,168,350	C/A	—	likely benign
rs767454853	1:11,168,352	G/A	—	likely benign
rs2521992078	1:11,168,353	G/A	—	likely benign
rs375015336	1:11,168,385	A/C	—	benign
rs112932533	1:11,168,529	A/G	—	benign
rs187381019	1:11,168,626	C/T	—	likely benign
rs28730680	1:11,169,239	T/C	—	likely benign
rs184321569	1:11,169,272	G/A	—	likely benign
rs79282528	1:11,169,273	G/C	—	likely benign
rs2100286145	1:11,169,328	A/G	—	likely benign
rs1198949186	1:11,169,331	C/T	—	likely benign
rs1057519777	1:11,169,361	C/T	missense variant	uncertain significance
rs774727291	1:11,169,366	C/T	—	likely benign
rs968817513	1:11,169,374	T/A	—	pathogenic
rs1057519915	1:11,169,375	A/C	missense variant	pathogenic
rs1057519916	1:11,169,377	T/A	missense variant	—
rs1641738324	1:11,169,378	C/G	—	uncertain significance
rs143119651	1:11,169,379	T/C	—	likely benign
rs1203276748	1:11,169,402	C/T	—	likely benign
rs2100287416	1:11,169,419	C/T	—	likely benign
rs41274506	1:11,169,420	G/A	—	likely benign
rs897950333	1:11,169,437	A/C	—	uncertain significance
rs766621097	1:11,169,440	A/G	—	likely benign
rs754052777	1:11,169,443	G/T	—	likely benign
rs2275525	1:11,169,676	C/T	—	benign
rs369718641	1:11,169,679	G/T	—	likely benign
rs2522010855	1:11,169,686	T/C	—	likely benign
rs2522010991	1:11,169,697	T/C	—	likely benign
rs1452469031	1:11,169,699	A/C	—	likely benign
rs2522011232	1:11,169,716	A/C	—	uncertain significance
rs372238571	1:11,169,718	T/C	—	benign
rs2522011330	1:11,169,723	T/A	—	uncertain significance
rs1429619787	1:11,169,729	A/G	—	benign
rs2100289380	1:11,169,732	G/A	—	uncertain significance
rs955814963	1:11,169,737	C/A	—	likely benign
rs776875131	1:11,169,740	C/T	—	likely benign
rs1228569453	1:11,169,741	G/A	—	uncertain significance
rs1570895733	1:11,169,744	T/A	—	uncertain significance
rs1641757253	1:11,169,747	T/C	—	uncertain significance
rs376373501	1:11,169,750	T/C	—	uncertain significance
rs1342870852	1:11,169,751	G/T	—	benign
rs151027751	1:11,169,752	G/C	—	likely benign
rs752933118	1:11,169,758	C/T	—	likely benign
rs1641758308	1:11,169,762	C/G	—	likely benign
rs1443172891	1:11,169,770	C/T	—	likely benign
rs762795847	1:11,169,774	C/G	—	uncertain significance
rs574378176	1:11,169,775	C/T	—	likely benign
rs751449358	1:11,169,776	G/A	—	likely benign
rs1641759287	1:11,169,779	C/A	—	uncertain significance
rs1060501911	1:11,169,783	A/G	—	uncertain significance
rs56412200	1:11,169,789	A/G	—	likely benign
rs1641760146	1:11,169,790	T/C	—	likely benign
rs780630255	1:11,169,795	A/G	—	likely benign
rs749909793	1:11,169,798	G/T	—	likely benign
rs748951577	1:11,169,826	C/A	—	benign
rs28730681	1:11,169,868	T/C	—	likely benign
rs563564440	1:11,170,066	A/T	—	likely benign
rs58906644	1:11,170,067	A/T	—	benign
rs184377570	1:11,170,068	T/A	—	likely benign
rs17036350	1:11,171,226	C/T	intron variant	—
rs1148480	1:11,172,006	A/G	intron variant	—

Showing 100 of 2,196 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.