GNLY
granulysin
Summary
The product of this gene is a member of the saposin-like protein (SAPLIP) family and is located in the cytotoxic granules of T cells, which are released upon antigen stimulation. This protein is present in cytotoxic granules of cytotoxic T lymphocytes and natural killer cells, and it has antimicrobial activity against M. tuberculosis and other organisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147376685 | 2:85,920,048 | C/T | upstream gene variant | — |
| rs2886767 | 2:85,920,329 | T/A | — | — |
| rs151117270 | 2:85,921,549 | C/T | — | benign |
| rs10181739 | 2:85,921,552 | G/A | — | benign |
| rs2466754894 | 2:85,921,555 | C/T | — | uncertain significance |
| rs6732835 | 2:85,922,468 | T/C | — | benign |
| rs536778953 | 2:85,922,479 | A/G | — | uncertain significance |
| rs763150529 | 2:85,922,504 | T/G | — | uncertain significance |
| rs573832985 | 2:85,922,521 | C/T | — | uncertain significance |
| rs577851040 | 2:85,923,082 | G/T | — | uncertain significance |
| rs138334587 | 2:85,923,133 | T/C | missense variant | — |
| rs757879664 | 2:85,923,139 | T/C | — | uncertain significance |
| rs61731721 | 2:85,923,169 | A/C | missense variant | — |
| rs41290043 | 2:85,923,181 | T/C | splice region variant | — |
| rs6719320 | 2:85,924,326 | T/A | — | — |
| rs1561285 | 2:85,924,384 | C/G | intron variant | — |
| rs769889036 | 2:85,924,663 | G/A | — | uncertain significance |
| rs11127 | 2:85,924,729 | C/A | missense variant | — |
| rs780341712 | 2:85,924,756 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.