| Entrez Gene ID | 55187 |
|---|---|
| Official Gene Symbol | VPS13D (GeneCards) |
| Full name | vacuolar protein sorting 13 homolog D |
| Location | 1p36.22-p36.21 |
| Other ids | Vega : OTTHUMG00000013155 MIM : 608877 HGNC : HGNC:23595 Ensembl : ENSG00000048707 |
| Other names | None |
| Summary | This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1578 | 55187 | VPS13D | 1 | 12428626 | 12428626 | Autism Spectrum Disorders | NextSeq500 v2 |
| 2215 | 55187 | VPS13D | 1 | 12461156 | 12461156 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 2528 | 55187 | VPS13D | 1 | 12606784 | 12606784 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 29196 | 55187 | VPS13D | 1 | 12428626 | 12428626 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten PASM |
| 29702 | 55187 | VPS13D | 1 | 12428626 | 12428626 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten PASM NextSeq500 |