| Entrez Gene ID | 8911 |
|---|---|
| Official Gene Symbol | CACNA1I (GeneCards) |
| Full name | calcium voltage-gated channel subunit alpha1 I |
| Location | 22q13.1 |
| Other ids | Vega : OTTHUMG00000151096 MIM : 608230 HGNC : HGNC:1396 Ensembl : ENSG00000100346 |
| Other names | Cav3.3, ca(v)3.3 |
| Summary | This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1212 | 8911 | CACNA1I | 22 | 40066099 | 40066099 | Autism Spectrum Disorders | NextSeq500 v2 |
| 21823 | 8911 | CACNA1I | 22 | 40130860 | 40130860 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 28731 | 8911 | CACNA1I | 22 | 39977696 | 39977696 | Asymptomatic | NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning |
| 28746 | 8911 | CACNA1I | 22 | 40094150 | 40094150 | Asymptomatic | NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning |
| 29463 | 8911 | CACNA1I | 22 | 40066099 | 40066099 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning MiSeq |