| Entrez Gene ID | 83481 |
|---|---|
| Official Gene Symbol | EPPK1 (GeneCards) |
| Full name | epiplakin 1 |
| Location | 8q24.3 |
| Other ids | Vega : OTTHUMG00000165206 MIM : 607553 HGNC : HGNC:15577 Ensembl : ENSG00000261150 |
| Other names | EPIPL, EPIPL1 |
| Summary | The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29346 | 83481 | EPPK1 | 8 | 144945296 | 144945296 | Autism Spectrum Disorders | MiSeq |
| 29408 | 83481 | EPPK1 | 8 | 144940432 | 144940432 | Autism Spectrum Disorders | MiSeq |
| 29820 | 83481 | EPPK1 | 8 | 144940414 | 144940414 | Autism Spectrum Disorders | MiSeq NextSeq500 |