KLRB1
killer cell lectin like receptor B1
Summary
Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371875963 | 12:9,747,907 | A/C | — | uncertain significance |
| rs150796627 | 12:9,749,354 | G/T | intron variant | — |
| rs1249217693 | 12:9,750,711 | A/G | — | uncertain significance |
| rs373666093 | 12:9,751,126 | C/G | — | uncertain significance |
| rs772576036 | 12:9,751,209 | T/G | — | uncertain significance |
| rs769370028 | 12:9,751,234 | A/G | — | uncertain significance |
| rs762564487 | 12:9,752,369 | T/G | — | uncertain significance |
| rs767191355 | 12:9,752,376 | C/G | — | uncertain significance |
| rs1273740649 | 12:9,752,413 | G/A | — | uncertain significance |
| rs142063673 | 12:9,752,422 | T/C | — | uncertain significance |
| rs563890415 | 12:9,753,680 | T/C | — | — |
| rs3933456 | 12:9,753,788 | C/T | — | — |
| rs778279235 | 12:9,754,107 | C/A | — | uncertain significance |
| rs1224629505 | 12:9,754,109 | A/T | — | uncertain significance |
| rs2497521634 | 12:9,754,132 | A/G | — | uncertain significance |
| rs757911661 | 12:9,754,163 | C/A | — | uncertain significance |
| rs139525269 | 12:9,754,189 | C/A | — | uncertain significance |
| rs4763655 | 12:9,755,578 | G/T | — | — |
| rs756112746 | 12:9,760,008 | T/G | — | — |
| rs368669716 | 12:9,760,343 | C/T | — | likely benign |
| rs1167539739 | 12:9,760,362 | G/T | — | uncertain significance |
| rs779033858 | 12:9,760,363 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.