HRK
harakiri, BCL2 interacting protein
Summary
This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17429217 | 12:117,295,333 | A/G | downstream gene variant | — |
| rs188402627 | 12:117,309,440 | T/A | intron variant | — |
| rs775044240 | 12:117,318,854 | C/G | — | uncertain significance |
| rs766714672 | 12:117,318,904 | G/A | — | uncertain significance |
| rs918351930 | 12:117,318,938 | C/T | — | uncertain significance |
| rs929616287 | 12:117,318,945 | G/A | — | likely benign |
| rs1483842843 | 12:117,318,967 | A/G | — | uncertain significance |
| rs2499922296 | 12:117,319,012 | G/A | — | uncertain significance |
| rs1334839016 | 12:117,319,025 | C/T | — | uncertain significance |
| rs2499922477 | 12:117,319,096 | A/G | — | uncertain significance |
| rs146607495 | 12:117,319,202 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.