| Entrez Gene ID | 23230 |
|---|---|
| Official Gene Symbol | VPS13A (GeneCards) |
| Full name | vacuolar protein sorting 13 homolog A |
| Location | 9q21.2 |
| Other ids | Vega : OTTHUMG00000020055 MIM : 605978 HGNC : HGNC:1908 Ensembl : ENSG00000197969 |
| Other names | CHAC, CHOREIN |
| Summary | The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1009 | 23230 | VPS13A | 9 | 79929021 | 79929021 | Human Skin Fibroblasts | HiSeq 2500 |
| 1010 | 23230 | VPS13A | 9 | 79929022 | 79929022 | Human Skin Fibroblasts | HiSeq 2500 |
| 13187 | 23230 | VPS13A | 9 | 79824221 | 79824221 | Asymptomatic | HiSeq 2500 HiSeq X Ten |