Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E23*
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BRCA1

NM_007294.4:p.E23*

Associated Papers

The Role of Germline Mutations in Thoracic Malignancies: Between Myth and Reality.

Farinea G et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2023

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s013.xlsx › Sheet1

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 › BRCA2

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM et al.

Nature, 2018

30209399 (PubMed )
Supplement: NIHMS1501643-supplement-2.xlsx › Sheet1

The repertoire of somatic genetic alterations of acinic cell carcinomas of the breast: an exploratory, hypothesis-generating study.

Guerini-Rocco E et al.

The Journal of Pathology, 2015

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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."