BTN3A1
butyrophilin subfamily 3 member A1
Summary
The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9379873 | 6:26,402,717 | T/G | — | — |
| rs372233454 | 6:26,406,141 | G/C | — | uncertain significance |
| rs150905778 | 6:26,406,320 | G/A | — | uncertain significance |
| rs767404028 | 6:26,406,322 | G/A | — | uncertain significance |
| rs1461205077 | 6:26,406,434 | T/C | — | uncertain significance |
| rs2533189048 | 6:26,408,027 | C/A | — | uncertain significance |
| rs148613503 | 6:26,408,043 | C/G | — | uncertain significance |
| rs200236658 | 6:26,408,056 | C/A | — | uncertain significance |
| rs144114619 | 6:26,408,145 | T/A | — | likely benign |
| rs75782365 | 6:26,408,551 | T/G | intron variant | — |
| rs145059723 | 6:26,409,782 | A/G | — | uncertain significance |
| rs199668049 | 6:26,409,796 | G/T | — | uncertain significance |
| rs754940106 | 6:26,409,833 | T/C | — | uncertain significance |
| rs1762138320 | 6:26,409,859 | C/A | — | uncertain significance |
| rs555187363 | 6:26,409,881 | C/G | — | uncertain significance |
| rs376287137 | 6:26,409,925 | G/T | — | uncertain significance |
| rs1762281697 | 6:26,413,502 | C/T | — | uncertain significance |
| rs773202042 | 6:26,413,524 | T/A | — | likely benign |
| rs141935374 | 6:26,413,573 | G/A | — | uncertain significance |
| rs143476765 | 6:26,413,591 | A/G | — | uncertain significance |
| rs2533238953 | 6:26,413,631 | G/A | — | likely benign |
| rs751120314 | 6:26,413,705 | A/G | — | likely benign |
| rs187033952 | 6:26,413,714 | G/A | — | uncertain significance |
| rs373072663 | 6:26,413,720 | A/G | — | uncertain significance |
| rs2533240898 | 6:26,413,823 | T/C | — | uncertain significance |
| rs144592497 | 6:26,413,840 | G/A | — | uncertain significance |
| rs1338550281 | 6:26,413,843 | T/C | — | uncertain significance |
| rs142919616 | 6:26,413,905 | T/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.