| Entrez Gene ID | 54869 |
|---|---|
| Official Gene Symbol | EPS8L1 (GeneCards) |
| Full name | EPS8 like 1 |
| Location | 19q13.42 |
| Other ids | Vega : OTTHUMG00000180513 MIM : 614987 HGNC : HGNC:21295 Ensembl : ENSG00000131037 |
| Other names | DRC3, EPS8R1, PP10566 |
| 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. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 21028 | 54869 | EPS8L1 | 19 | 55594013 | 55594013 | Cockayne syndrome | HiSeq X Ten |