Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.A1823V
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BRCA1

NM_007294.4:p.A1823V

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

When two plus four does not equal six: Combining computational and functional evidence to classify BRCA1 key domain missense substitutions.

Pew ST et al.

American Journal of Human Genetics, 2025

When Two plus Four Does Not Equal Six: Combining Computational and Functional Evidence to Classify BRCA1 Key Domain Missense Substitutions.

Pew ST et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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-2.xlsx › TableS1

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
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