Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K1724E
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BRCA1

NM_007294.4:p.K1724E

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 › BRCT2_ABX

ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence.

Ramadane-Morchadi L et al.

American Journal of Human Genetics, 2025

40233743 (PubMed )
Supplement: mmc2.xlsx › Hoja1

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

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA2_ethnic_sources_

"Similarity trap" in protein-protein interactions could be carcinogenic: simulations of p53 core domain complexed with 53BP1 and BRCA1 BRCT domains.

Liu J et al.

Structure (london, England : 1993), 2006

Screening of Germline BRCA1 and BRCA2 Variants in Nigerian Breast Cancer Patients.

Onyia AF et al.

Technology in Cancer Research & Treatment, 0

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