| Entrez Gene ID | 8925 |
|---|---|
| Official Gene Symbol | HERC1 (GeneCards) |
| Full name | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
| Location | 15q22.31 |
| Other ids | Vega : OTTHUMG00000172433 MIM : 605109 HGNC : HGNC:4867 Ensembl : ENSG00000103657 |
| Other names | p532, p619, MDFPMR |
| Summary | This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 18818 | 8925 | HERC1 | 15 | 64070675 | 64070675 | Asymptomatic | HiSeq X Ten |
| 18931 | 8925 | HERC1 | 15 | 64146759 | 64146759 | Asymptomatic | HiSeq X Ten |
| 19064 | 8925 | HERC1 | 15 | 64145754 | 64145754 | Asymptomatic | HiSeq X Ten |
| 19121 | 8925 | HERC1 | 15 | 63941371 | 63941371 | Asymptomatic | HiSeq X Ten |
| 19311 | 8925 | HERC1 | 15 | 64092578 | 64092578 | Xeroderma Pigmentosum | HiSeq X Ten |