| Entrez Gene ID | 2475 |
|---|---|
| Official Gene Symbol | MTOR (GeneCards) |
| Full name | mechanistic target of rapamycin kinase |
| Location | 1p36.22 |
| Other ids | Vega : OTTHUMG00000002001 MIM : 601231 HGNC : HGNC:3942 Ensembl : ENSG00000198793 |
| Other names | SKS, FRAP, FRAP1, FRAP2, RAFT1, RAPT1 |
| 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 protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008] |
Found 21 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 606 | 2475 | MTOR | 1 | 11190804 | 11190804 | Autism Spectrum Disorders | HiSeq2000 |
| 608 | 2475 | MTOR | 1 | 11210266 | 11210266 | Focal Cortical Dysplasias | HiSeq2000 Sanger |
| 662 | 2475 | MTOR | 1 | 11174395 | 11174395 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 |
| 663 | 2475 | MTOR | 1 | 11174395 | 11174395 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 |
| 664 | 2475 | MTOR | 1 | 11184640 | 11184640 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 |
| 665 | 2475 | MTOR | 1 | 11298590 | 11298590 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 |
| 666 | 2475 | MTOR | 1 | 11199365 | 11199365 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 |
| 667 | 2475 | MTOR | 1 | 11184573 | 11184573 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 |
| 668 | 2475 | MTOR | 1 | 11174395 | 11174395 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 |
| 669 | 2475 | MTOR | 1 | 11188164 | 11188164 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 |
| 670 | 2475 | MTOR | 1 | 11217330 | 11217330 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 |
| 671 | 2475 | MTOR | 1 | 11217231 | 11217231 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 |
| 672 | 2475 | MTOR | 1 | 11184573 | 11184573 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 |
| 673 | 2475 | MTOR | 1 | 11188164 | 11188164 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 |
| 689 | 2475 | MTOR | 1 | 11184573 | 11184573 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 NextSeq |
| 690 | 2475 | MTOR | 1 | 11184573 | 11184573 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 NextSeq |
| 1453 | 2475 | MTOR | 1 | 11190804 | 11190804 | Smith Kingsmore syndrome | HiSeq2000 Sanger HiSeq 2500 NextSeq |
| 1454 | 2475 | MTOR | 1 | 11217231 | 11217231 | Hemimegalencephaly | HiSeq2000 Sanger HiSeq 2500 NextSeq HiSeq 2000 HiSeq 2500 |
| 1455 | 2475 | MTOR | 1 | 11217299 | 11217299 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 NextSeq HiSeq 2000 HiSeq 2500 Sanger |
| 1456 | 2475 | MTOR | 1 | 11188164 | 11188164 | Focal Cortical Dysplasias | HiSeq2000 Sanger HiSeq 2500 NextSeq HiSeq 2000 HiSeq 2500 Sanger |
| 1457 | 2475 | MTOR | 1 | 11184573 | 11184573 | Hemimegalencephaly | HiSeq2000 Sanger HiSeq 2500 NextSeq HiSeq 2000 HiSeq 2500 Sanger |