BAK1
BCL2 antagonist/killer 1
Summary
The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs210134 | 6:33,540,209 | A/T | — | — |
| rs210135 | 6:33,540,692 | T/C | — | — |
| rs191850317 | 6:33,540,836 | G/A | 3 prime UTR variant | — |
| rs1169211908 | 6:33,541,596 | C/G | — | uncertain significance |
| rs781130899 | 6:33,541,638 | A/G | — | uncertain significance |
| rs513349 | 6:33,541,719 | A/T | — | — |
| rs1417013867 | 6:33,541,864 | C/T | — | uncertain significance |
| rs755973013 | 6:33,541,908 | T/C | — | likely benign |
| rs376712748 | 6:33,541,918 | C/T | — | uncertain significance |
| rs548190187 | 6:33,541,939 | C/T | — | uncertain significance |
| rs764437421 | 6:33,541,962 | C/G | — | uncertain significance |
| rs210138 | 6:33,542,538 | A/G | intron variant | — |
| rs561276 | 6:33,543,116 | C/T | synonymous variant | — |
| rs764068634 | 6:33,543,661 | C/T | — | uncertain significance |
| rs1164845782 | 6:33,543,685 | T/C | — | uncertain significance |
| rs4987115 | 6:33,543,693 | G/A | — | benign |
| rs210140 | 6:33,544,293 | C/T | intron variant | — |
| rs5745582 | 6:33,546,498 | C/T | regulatory region variant | — |
| rs210142 | 6:33,546,837 | T/A | — | — |
| rs210143 | 6:33,546,930 | T/A | — | — |
| rs5745568 | 6:33,548,394 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.