BABAM1
BRISC and BRCA1 A complex member 1
Summary
Enables identical protein binding activity. Involved in several processes, including DNA repair-dependent chromatin remodeling; mitotic G2 DNA damage checkpoint signaling; and positive regulation of DNA repair. Located in cytosol and nuclear body. Part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10424178 | 19:17,379,558 | T/C | — | benign |
| rs368360317 | 19:17,379,784 | A/G | — | uncertain significance |
| rs749054620 | 19:17,379,809 | C/T | — | uncertain significance |
| rs527992252 | 19:17,379,869 | G/A | — | uncertain significance |
| rs2513113746 | 19:17,384,923 | G/T | — | uncertain significance |
| rs1347804327 | 19:17,386,625 | T/G | — | uncertain significance |
| rs765723650 | 19:17,387,337 | C/A | — | uncertain significance |
| rs2513119170 | 19:17,387,348 | T/C | — | uncertain significance |
| rs201681717 | 19:17,387,369 | G/C | — | uncertain significance |
| rs770529132 | 19:17,387,408 | A/T | — | uncertain significance |
| rs373345419 | 19:17,387,668 | G/A | — | uncertain significance |
| rs199960321 | 19:17,387,698 | G/A | — | uncertain significance |
| rs10406920 | 19:17,389,648 | C/T | splice region variant | — |
| rs2513124259 | 19:17,389,654 | G/C | — | uncertain significance |
| rs767310034 | 19:17,389,700 | A/G | — | uncertain significance |
| rs8170 | 19:17,389,704 | G/A | synonymous variant | — |
| rs4808075 | 19:17,390,291 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.