Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1794V
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BRCA1

NM_007294.4:p.E1794V

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

The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms.

Canson DM et al.

Genome Research, 2025

40769711 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › S1.splicing_results_summary

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-3.xlsx › Table_S2
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