NCR3LG1
natural killer cell cytotoxicity receptor 3 ligand 1
Summary
B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs988016164 | 11:17,373,521 | C/A | — | uncertain significance |
| rs779965207 | 11:17,373,581 | C/T | — | uncertain significance |
| rs574856970 | 11:17,378,234 | A/G | — | uncertain significance |
| rs1332249168 | 11:17,378,275 | A/G | — | likely benign |
| rs181817023 | 11:17,378,308 | A/G | — | uncertain significance |
| rs1391223393 | 11:17,378,345 | A/G | — | uncertain significance |
| rs1565501467 | 11:17,378,367 | A/C | — | uncertain significance |
| rs1274114898 | 11:17,378,396 | G/A | — | uncertain significance |
| rs761753789 | 11:17,378,405 | C/T | — | uncertain significance |
| rs2496346854 | 11:17,378,416 | C/A | — | uncertain significance |
| rs746298544 | 11:17,378,449 | C/T | — | uncertain significance |
| rs888415200 | 11:17,378,450 | G/T | — | uncertain significance |
| rs61880297 | 11:17,384,234 | C/T | — | — |
| rs4757508 | 11:17,384,312 | T/C | intron variant | — |
| rs12146652 | 11:17,384,542 | C/G | — | — |
| rs539637857 | 11:17,386,258 | T/G | — | — |
| rs11024268 | 11:17,387,982 | A/G | regulatory region variant | — |
| rs1205885651 | 11:17,388,651 | A/G | — | uncertain significance |
| rs1482351267 | 11:17,388,663 | T/C | — | uncertain significance |
| rs1389365668 | 11:17,388,708 | G/A | — | uncertain significance |
| rs1044657942 | 11:17,388,715 | T/A | — | uncertain significance |
| rs910877209 | 11:17,390,458 | T/A | — | uncertain significance |
| rs935169816 | 11:17,390,488 | A/T | — | uncertain significance |
| rs72865036 | 11:17,391,084 | A/T | intron variant | — |
| rs10832778 | 11:17,394,073 | C/A | — | — |
| rs1557765 | 11:17,403,639 | T/G | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.