BBX
BBX high mobility group box domain containing
Summary
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within bone development. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2049109 | 3:107,240,934 | T/C | upstream gene variant | — |
| rs9876650 | 3:107,245,051 | G/A | — | — |
| rs13060816 | 3:107,280,486 | T/C | intron variant | — |
| rs604988 | 3:107,289,928 | A/G | intron variant | — |
| rs28428925 | 3:107,294,634 | G/A | intron variant | — |
| rs28513882 | 3:107,296,628 | G/A | intron variant | — |
| rs115876159 | 3:107,307,336 | G/C | intron variant | — |
| rs13318675 | 3:107,339,837 | A/T | — | — |
| rs6437738 | 3:107,366,390 | C/A | intron variant | — |
| rs9810356 | 3:107,368,077 | T/C | — | — |
| rs75774080 | 3:107,374,640 | C/T | intron variant | — |
| rs9869574 | 3:107,381,651 | A/C | intron variant | — |
| rs28447555 | 3:107,385,668 | C/T | intron variant | — |
| rs773501127 | 3:107,429,327 | A/G | — | uncertain significance |
| rs150018279 | 3:107,435,471 | C/T | — | likely benign |
| rs372598327 | 3:107,435,473 | A/G | — | uncertain significance |
| rs199641554 | 3:107,435,515 | C/T | — | uncertain significance |
| rs151079480 | 3:107,435,587 | G/A | — | uncertain significance |
| rs749470151 | 3:107,435,638 | A/G | — | uncertain significance |
| rs1358166765 | 3:107,447,619 | A/T | — | uncertain significance |
| rs2474553765 | 3:107,463,529 | A/C | — | uncertain significance |
| rs6437740 | 3:107,465,817 | T/C | intron variant | — |
| rs150121801 | 3:107,466,840 | C/T | — | benign |
| rs748734210 | 3:107,466,866 | G/C | — | uncertain significance |
| rs1457569008 | 3:107,466,885 | A/C | — | uncertain significance |
| rs761415898 | 3:107,474,490 | C/T | — | uncertain significance |
| rs544541866 | 3:107,491,538 | G/A | — | uncertain significance |
| rs780329353 | 3:107,491,589 | A/C | — | uncertain significance |
| rs982625851 | 3:107,491,608 | A/G | — | uncertain significance |
| rs748639341 | 3:107,491,611 | C/G | — | uncertain significance |
| rs1182759018 | 3:107,491,614 | G/A | — | uncertain significance |
| rs2474917358 | 3:107,491,667 | T/C | — | uncertain significance |
| rs762828184 | 3:107,491,691 | G/A | — | uncertain significance |
| rs191869730 | 3:107,491,701 | T/G | — | uncertain significance |
| rs758816608 | 3:107,491,851 | A/G | — | uncertain significance |
| rs138961599 | 3:107,491,892 | A/G | — | benign |
| rs368835354 | 3:107,492,024 | G/A | — | uncertain significance |
| rs2474926884 | 3:107,492,069 | G/C | — | uncertain significance |
| rs767972391 | 3:107,492,124 | G/A | — | uncertain significance |
| rs753355725 | 3:107,492,151 | A/G | — | uncertain significance |
| rs2474930585 | 3:107,492,205 | C/G | — | uncertain significance |
| rs2067062511 | 3:107,492,228 | G/A | — | uncertain significance |
| rs766871228 | 3:107,492,256 | A/T | — | uncertain significance |
| rs148514910 | 3:107,492,259 | T/A | — | uncertain significance |
| rs748302046 | 3:107,492,321 | C/T | — | uncertain significance |
| rs377165584 | 3:107,492,342 | G/A | — | uncertain significance |
| rs370933942 | 3:107,493,608 | G/C | — | uncertain significance |
| rs543527927 | 3:107,497,222 | G/A | — | uncertain significance |
| rs201690465 | 3:107,497,230 | G/A | — | likely benign |
| rs200449835 | 3:107,508,707 | C/T | — | likely benign |
| rs374206549 | 3:107,508,709 | A/G | — | uncertain significance |
| rs746022455 | 3:107,510,127 | T/A | — | uncertain significance |
| rs11927222 | 3:107,510,150 | A/G | — | benign |
| rs1418545690 | 3:107,517,402 | C/T | — | uncertain significance |
| rs373230525 | 3:107,517,403 | C/T | — | uncertain significance |
| rs376586358 | 3:107,517,540 | C/G | — | uncertain significance |
| rs199832268 | 3:107,520,009 | A/T | — | uncertain significance |
| rs781213654 | 3:107,520,031 | G/A | — | uncertain significance |
| rs140221563 | 3:107,520,066 | C/T | — | benign |
| rs200844510 | 3:107,520,067 | G/A | — | uncertain significance |
| rs758572861 | 3:107,520,088 | G/A | — | uncertain significance |
| rs747821182 | 3:107,520,125 | A/G | — | uncertain significance |
| rs372361373 | 3:107,524,248 | G/A | — | uncertain significance |
| rs148463172 | 3:107,524,265 | G/A | — | uncertain significance |
| rs1559820282 | 3:107,524,275 | C/T | — | uncertain significance |
| rs2475513284 | 3:107,524,300 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.