ABRAXAS1 Chromosome 4
Abraxas 1, BRCA1 A complex subunit
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What This Gene Does
This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
BRCA1 A complex
Locus Type
gene with protein product
Location
4q21.23
Ensembl
ENSG00000163322
Associated Conditions (2)
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Key Variants
RS114513239
Conflicting classifications of pathogenicity
Health Risk
RS1248645578
Conflicting classifications of pathogenicity
Health Risk
RS137876115
Conflicting classifications of pathogenicity
Health Risk
RS138594808
Conflicting classifications of pathogenicity
Health Risk
RS142910445
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS149091407
Conflicting classifications of pathogenicity
Health Risk
RS150371881
Conflicting classifications of pathogenicity
Health Risk
RS1722161264
Conflicting classifications of pathogenicity
Health Risk
RS1722162523
Conflicting classifications of pathogenicity
Health Risk
RS1722173605
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1722491084
Conflicting classifications of pathogenicity
Health Risk
RS1723136070
Conflicting classifications of pathogenicity
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114513239 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1248645578 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS137876115 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138594808 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142910445 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS149091407 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150371881 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1722161264 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1722162523 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1722173605 | Health Risk | Conflicting classifications of pathogenicity | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS1722491084 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1723136070 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199541299 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200281698 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201627097 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201698934 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201948472 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2529438150 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS367958380 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368006283 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370520589 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376489465 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587780262 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS748475674 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748861737 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751122263 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753767582 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758777622 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760067070 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763567031 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764429803 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765721350 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773812911 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775345294 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778357689 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781160014 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS901660662 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS924277966 | Health Risk | Conflicting classifications of pathogenicity | — |