KLRD1
killer cell lectin like receptor D1
Summary
Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs117955546 | 12:10,423,953 | G/T | intron variant | — |
| rs117286980 | 12:10,439,040 | G/C | intron variant | — |
| rs574316249 | 12:10,443,946 | G/A | — | — |
| rs2302489 | 12:10,460,543 | A/T | 5 prime UTR variant | — |
| rs781189811 | 12:10,464,078 | C/A | — | uncertain significance |
| rs200201779 | 12:10,464,158 | C/A | — | uncertain significance |
| rs1862544063 | 12:10,464,186 | T/G | — | uncertain significance |
| rs142694897 | 12:10,464,204 | C/T | — | uncertain significance |
| rs181806084 | 12:10,464,206 | G/C | — | uncertain significance |
| rs202095184 | 12:10,466,022 | C/G | — | uncertain significance |
| rs765373788 | 12:10,467,312 | G/T | — | uncertain significance |
| rs1426156317 | 12:10,467,367 | A/C | — | uncertain significance |
| rs12303914 | 12:10,471,050 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.