| Entrez Gene ID | 79574 |
|---|---|
| Official Gene Symbol | EPS8L3 (GeneCards) |
| Full name | EPS8 like 3 |
| Location | 1p13.3 |
| Other ids | Vega : OTTHUMG00000011651 MIM : 614989 HGNC : HGNC:21297 Ensembl : ENSG00000198758 |
| Other names | EPS8R3 |
| Summary | This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1618 | 79574 | EPS8L3 | 1 | 110371377 | 110371377 | Asymptomatic | HiSeq X Ten |
| 2236 | 79574 | EPS8L3 | 1 | 110432409 | 110432409 | Asymptomatic | HiSeq X Ten |
| 2672 | 79574 | EPS8L3 | 1 | 110310629 | 110310629 | Cockayne syndrome | HiSeq X Ten |
| 29422 | 79574 | EPS8L3 | 1 | 110294811 | 110294811 | Autism Spectrum Disorders | HiSeq X Ten MiSeq |