GZMB
granzyme B
Summary
This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2236337 | 14:25,100,247 | T/C | regulatory region variant | — |
| rs2066990138 | 14:25,100,281 | T/C | — | uncertain significance |
| rs2236338 | 14:25,100,282 | A/T | missense variant | — |
| rs767220668 | 14:25,100,285 | G/A | — | uncertain significance |
| rs752473990 | 14:25,100,290 | A/T | — | uncertain significance |
| rs2501898758 | 14:25,100,317 | C/A | — | uncertain significance |
| rs763963542 | 14:25,100,359 | C/T | — | uncertain significance |
| rs142875748 | 14:25,100,364 | A/G | — | benign |
| rs74345106 | 14:25,100,391 | G/T | — | likely benign |
| rs6573911 | 14:25,100,933 | C/T | intron variant | — |
| rs2501902032 | 14:25,101,125 | T/C | — | uncertain significance |
| rs747068918 | 14:25,101,165 | C/T | — | uncertain significance |
| rs1466089628 | 14:25,101,171 | T/C | — | uncertain significance |
| rs201073774 | 14:25,101,184 | T/C | — | likely benign |
| rs757031846 | 14:25,101,228 | C/T | — | uncertain significance |
| rs201869226 | 14:25,101,281 | C/T | — | uncertain significance |
| rs1126639 | 14:25,101,548 | G/A | — | likely benign |
| rs11539752 | 14:25,101,589 | G/C | missense variant | benign |
| rs10909625 | 14:25,101,629 | T/C | synonymous variant | benign |
| rs2501904638 | 14:25,101,655 | C/T | — | uncertain significance |
| rs769831969 | 14:25,102,149 | C/T | — | uncertain significance |
| rs8192917 | 14:25,102,160 | C/T | missense variant | — |
| rs767677921 | 14:25,102,173 | C/T | — | uncertain significance |
| rs756689392 | 14:25,102,181 | C/T | — | uncertain significance |
| rs768588540 | 14:25,102,230 | G/A | — | uncertain significance |
| rs1181233158 | 14:25,102,254 | C/T | — | uncertain significance |
| rs368712815 | 14:25,102,257 | C/T | — | uncertain significance |
| rs201057518 | 14:25,103,302 | G/C | — | benign |
| rs7144366 | 14:25,103,662 | T/A | coding sequence variant | — |
| rs8192916 | 14:25,104,360 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.