GZMK
granzyme K
Summary
This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs544450330 | 5:54,320,509 | G/A | — | uncertain significance |
| rs1457840625 | 5:54,320,575 | T/C | — | uncertain significance |
| rs2478359211 | 5:54,320,584 | G/T | — | uncertain significance |
| rs191848681 | 5:54,321,130 | T/C | upstream gene variant | — |
| rs1007692523 | 5:54,326,368 | A/G | — | uncertain significance |
| rs750796943 | 5:54,327,271 | A/G | — | uncertain significance |
| rs146138819 | 5:54,327,417 | A/C | — | uncertain significance |
| rs2112938 | 5:54,327,955 | G/C | — | — |
| rs200562138 | 5:54,329,635 | G/A | — | uncertain significance |
| rs148865056 | 5:54,329,675 | A/C | — | uncertain significance |
| rs1261615822 | 5:54,329,686 | T/C | — | uncertain significance |
| rs2478374135 | 5:54,329,708 | A/G | — | uncertain significance |
| rs566513877 | 5:54,329,728 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.