VDAC1
voltage dependent anion channel 1
Summary
This gene encodes a voltage-dependent anion channel protein that is a major component of the outer mitochondrial membrane. The encoded protein facilitates the exchange of metabolites and ions across the outer mitochondrial membrane and may regulate mitochondrial functions. This protein also forms channels in the plasma membrane and may be involved in transmembrane electron transport. Alternate splicing results in multiple transcript variants. Multiple pseudogenes of this gene are found on chromosomes 1, 2 3, 6, 9, 12, X and Y.[provided by RefSeq, Sep 2010]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371614785 | 5:133,309,484 | G/C | — | uncertain significance |
| rs933199484 | 5:133,311,614 | G/A | — | uncertain significance |
| rs2479497167 | 5:133,311,627 | C/T | — | uncertain significance |
| rs990025173 | 5:133,316,469 | T/C | — | uncertain significance |
| rs755166717 | 5:133,316,534 | T/C | — | uncertain significance |
| rs1237336790 | 5:133,316,618 | T/C | — | uncertain significance |
| rs1451281900 | 5:133,326,779 | A/T | — | uncertain significance |
| rs149088448 | 5:133,326,780 | C/G | — | uncertain significance |
| rs757866074 | 5:133,326,799 | G/A | — | uncertain significance |
| rs1753162445 | 5:133,328,660 | C/G | — | uncertain significance |
| rs247463 | 5:133,384,337 | T/G | intergenic variant | — |
| rs60111777 | 5:133,402,911 | C/T | intergenic variant | — |
| rs244674 | 5:133,420,798 | T/C | upstream gene variant | — |
| rs244690 | 5:133,421,744 | G/T | — | — |
| rs244687 | 5:133,423,616 | A/G | intergenic variant | — |
| rs244686 | 5:133,423,794 | T/A | — | — |
| rs6874758 | 5:133,429,192 | G/C | intergenic variant | — |
| rs244676 | 5:133,431,615 | G/C | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.