Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1836Q
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BRCA1

NM_007294.4:p.E1836Q

Associated Papers

Profiling BRCA1-BRCT interactions and their functional relevance at amino acid resolution.

Mangkusaputra V et al.

Nucleic Acids Research, 2025

40966517 (PubMed )
Supplement: gkaf848_supplemental_files.zip › Sup_table_2___ABX_CtIP_complete_count_and_scores.xlsx › BRCT3_ABX

Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough.

Abreu RBV et al.

Frontiers in Pharmacology, 2022

Prevalence of Clonal Hematopoiesis Mutations in Tumor-Only Clinical Genomic Profiling of Solid Tumors.

Ptashkin RN et al.

Jama Oncology, 2018

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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."