| Entrez Gene ID | 57724 |
|---|---|
| Official Gene Symbol | EPG5 (GeneCards) |
| Full name | ectopic P-granules autophagy protein 5 homolog |
| Location | 18q12.3-q21.1 |
| Other ids | Vega : OTTHUMG00000132626 MIM : 615068 HGNC : HGNC:29331 Ensembl : ENSG00000152223 |
| Other names | HEEW1, VICIS, KIAA1632 |
| Summary | This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29911 | 57724 | EPG5 | 18 | 43535061 | 43535061 | Autism Spectrum Disorders | NextSeq500 |