BABAM2
BRISC and BRCA1 A complex member 2
Summary
This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs113651030 | 2:28,113,157 | A/G | missense variant | — |
| rs201837586 | 2:28,117,536 | C/T | — | uncertain significance |
| rs68118529 | 2:28,118,763 | G/A | — | — |
| rs141361525 | 2:28,118,920 | C/G | upstream gene variant | — |
| rs541017344 | 2:28,147,543 | T/G | — | — |
| rs531578768 | 2:28,152,718 | G/C | — | uncertain significance |
| rs1667970436 | 2:28,152,748 | A/G | — | uncertain significance |
| rs13012050 | 2:28,156,640 | T/C | — | — |
| rs558925504 | 2:28,196,681 | G/A | — | — |
| rs10196483 | 2:28,221,182 | A/T | downstream gene variant | — |
| rs2466013201 | 2:28,248,117 | A/G | — | uncertain significance |
| rs138608273 | 2:28,248,190 | G/A | — | uncertain significance |
| rs1459297869 | 2:28,248,207 | A/T | — | uncertain significance |
| rs202064486 | 2:28,248,261 | A/G | — | uncertain significance |
| rs1675580754 | 2:28,248,277 | A/G | — | uncertain significance |
| rs116329464 | 2:28,254,036 | C/A | — | — |
| rs4666032 | 2:28,254,769 | T/C | intron variant | — |
| rs528903527 | 2:28,268,611 | G/A | — | uncertain significance |
| rs7567655 | 2:28,273,595 | A/G | intron variant | — |
| rs1395324 | 2:28,276,643 | C/A | — | — |
| rs1911127 | 2:28,279,693 | G/A | intron variant | — |
| rs144626895 | 2:28,280,396 | A/G | — | — |
| rs150293561 | 2:28,284,224 | G/A | — | — |
| rs192720265 | 2:28,307,468 | G/A | intron variant | — |
| rs7579087 | 2:28,327,216 | A/C | intron variant | — |
| rs62140431 | 2:28,332,751 | A/G | intron variant | — |
| rs111786627 | 2:28,338,863 | A/T | intron variant | — |
| rs60553414 | 2:28,342,536 | C/T | intron variant | — |
| rs7601155 | 2:28,347,682 | C/T | intron variant | — |
| rs6707054 | 2:28,350,220 | C/T | intron variant | — |
| rs193920803 | 2:28,352,193 | A/G | — | uncertain significance |
| rs370306496 | 2:28,352,226 | A/G | — | uncertain significance |
| rs773629059 | 2:28,352,238 | G/A | — | uncertain significance |
| rs72814468 | 2:28,359,016 | T/C | intron variant | — |
| rs12614347 | 2:28,362,019 | G/T | intron variant | — |
| rs34784711 | 2:28,362,552 | G/A | intron variant | — |
| rs17006576 | 2:28,365,914 | G/A | intron variant | — |
| rs60751755 | 2:28,378,559 | T/C | regulatory region variant | — |
| rs74949966 | 2:28,383,413 | C/G | — | — |
| rs10165930 | 2:28,383,841 | G/A | regulatory region variant | — |
| rs6722113 | 2:28,417,504 | G/T | — | — |
| rs34922334 | 2:28,429,128 | G/A | intron variant | — |
| rs10202640 | 2:28,434,477 | A/C | — | — |
| rs367605362 | 2:28,460,069 | T/G | — | uncertain significance |
| rs748807354 | 2:28,467,654 | G/A | — | uncertain significance |
| rs10865493 | 2:28,468,071 | C/T | — | — |
| rs72784738 | 2:28,470,210 | T/A | — | — |
| rs10173920 | 2:28,474,832 | T/C | intron variant | — |
| rs60922136 | 2:28,486,575 | C/T | — | — |
| rs181174790 | 2:28,488,074 | C/T | intron variant | — |
| rs4666051 | 2:28,517,861 | A/G | intron variant | — |
| rs776406129 | 2:28,521,258 | G/A | — | uncertain significance |
| rs764086199 | 2:28,521,313 | C/T | — | uncertain significance |
| rs138980743 | 2:28,529,637 | C/T | downstream gene variant | — |
| rs111770298 | 2:28,530,370 | A/G | downstream gene variant | — |
| rs150302537 | 2:28,532,947 | A/C | — | likely benign |
| rs368517485 | 2:28,550,173 | C/T | — | uncertain significance |
| rs2468026547 | 2:28,550,236 | G/A | — | uncertain significance |
| rs10202979 | 2:28,556,276 | G/C | — | — |
| rs10865494 | 2:28,556,890 | A/T | — | — |
| rs2136379 | 2:28,560,427 | C/T | intron variant | — |
| rs10193761 | 2:28,560,600 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.