| Entrez Gene ID | 3667 |
|---|---|
| Official Gene Symbol | IRS1 (GeneCards) |
| Full name | insulin receptor substrate 1 |
| Location | 2q36.3 |
| Other ids | Vega : OTTHUMG00000133179 MIM : 147545 HGNC : HGNC:6125 Ensembl : ENSG00000169047 |
| Other names | HIRS-1 |
| Summary | This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 4251 | 3667 | IRS1 | 2 | 227621649 | 227621649 | Cockayne syndrome | HiSeq X Ten |
| 24938 | 3667 | IRS1 | 2 | 227668049 | 227668049 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 25004 | 3667 | IRS1 | 2 | 227605717 | 227605717 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |