rs771137917

This variant is located in the ABRAXAS1 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

not specified

About ABRAXAS1

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]

View all ABRAXAS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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