GZMH
granzyme H
Summary
This gene encodes a member of the peptidase S1 family of serine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a chymotrypsin-like protease. This protein is reported to be constitutively expressed in the NK (natural killer) cells of the immune system and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. This gene is present in a gene cluster with another member of the granzyme subfamily on chromosome 14. [provided by RefSeq, Nov 2015]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs115493987 | 14:25,075,810 | T/A | — | benign |
| rs140139906 | 14:25,075,816 | C/T | — | uncertain significance |
| rs2501866653 | 14:25,075,820 | T/C | — | uncertain significance |
| rs190749747 | 14:25,076,303 | C/G | intron variant | — |
| rs139103808 | 14:25,076,402 | T/G | — | uncertain significance |
| rs149372387 | 14:25,076,432 | G/A | — | uncertain significance |
| rs200896469 | 14:25,076,477 | G/C | — | uncertain significance |
| rs2501869181 | 14:25,076,561 | T/C | — | uncertain significance |
| rs148085251 | 14:25,076,579 | G/A | — | uncertain significance |
| rs2501869408 | 14:25,076,608 | T/C | — | uncertain significance |
| rs756399689 | 14:25,076,835 | C/T | — | uncertain significance |
| rs754118977 | 14:25,076,921 | A/G | — | uncertain significance |
| rs1260267845 | 14:25,076,934 | C/T | — | uncertain significance |
| rs776100201 | 14:25,076,936 | A/C | — | uncertain significance |
| rs139373381 | 14:25,077,520 | T/C | — | likely benign |
| rs201094605 | 14:25,077,523 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.