Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1415fs
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BRCA1

NM_007294.4:p.E1415fs

Associated Papers

Gastric epithelium from BRCA1 and BRCA2 carriers harbors increased double-stranded DNA damage and augmented growth.

Buckley KH et al.

Biorxiv : the Preprint Server for Biology, 2025

41256354 (PubMed )
Supplement: NIHPP2025.10.01.679809V1-supplement-1.pdf

Evaluating breast cancer predisposition genes in women of African ancestry.

Díaz-Zabala H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."