Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1817D
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BRCA1

NM_007294.4:p.E1817D

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

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families of Eastern Spain.

Esteban Cardeñosa E et al.

Breast Cancer Research and Treatment, 2008

Familial breast and ovarian cancers.

Arai M et al.

International Journal of Clinical Oncology, 2004

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

Díez O et al.

Human Mutation, 2003

Screening of BRCA1 mutation using immunohistochemical staining with C-terminal and N-terminal antibodies in familial ovarian cancers.

Kashima K et al.

Japanese Journal of Cancer Research : Gann, 2000

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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."