| Entrez Gene ID | 7249 |
|---|---|
| Official Gene Symbol | TSC2 (GeneCards) |
| Full name | TSC complex subunit 2 |
| Location | 16p13.3 |
| Other ids | Vega : OTTHUMG00000128745 MIM : 191092 HGNC : HGNC:12363 Ensembl : ENSG00000103197 |
| Other names | LAM, TSC4, PPP1R160 |
| Summary | Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 552 | 7249 | TSC2 | 16 | 2136812 | 2136812 | Tuberous sclerosis2 | DHPLC |
| 1568 | 7249 | TSC2 | 16 | 2135300 | 2135300 | Focal Cortical Dysplasias | DHPLC HiSeq 2500 MiSeq |
| 1569 | 7249 | TSC2 | 16 | 2122880 | 2122880 | Focal Cortical Dysplasias | DHPLC HiSeq 2500 MiSeq Sanger |
| 1570 | 7249 | TSC2 | 16 | 2120501 | 2120501 | Hemimegalencephaly | DHPLC HiSeq 2500 MiSeq Sanger |
| 34663 | 7249 | TSC2 | 16 | 2129165 | 2129165 | Tuberous sclerosis complex | DHPLC HiSeq 2500 MiSeq Sanger Sanger Sequencing |
| 34664 | 7249 | TSC2 | 16 | 2127477 | 2127477 | Tuberous sclerosis complex | DHPLC HiSeq 2500 MiSeq Sanger Sanger Sequencing |