| Entrez Gene ID | 157680 |
|---|---|
| Official Gene Symbol | VPS13B (GeneCards) |
| Full name | vacuolar protein sorting 13 homolog B |
| Location | 8q22.2 |
| Other ids | Vega : OTTHUMG00000140383 MIM : 607817 HGNC : HGNC:2183 Ensembl : ENSG00000132549 |
| Other names | CHS1, COH1 |
| Summary | This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 12331 | 157680 | VPS13B | 8 | 100309965 | 100309965 | Asymptomatic | HiSeq X Ten |
| 26668 | 157680 | VPS13B | 8 | 100071088 | 100071088 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26680 | 157680 | VPS13B | 8 | 100588819 | 100588819 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29270 | 157680 | VPS13B | 8 | 100791009 | 100791009 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning PASM |