Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.M1783K
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BRCA1

NM_007294.4:p.M1783K

Associated Papers

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

Protein-Folding Chaperones Predict Structure-Function Relationships and Cancer Risk in BRCA1 Mutation Carriers.

Gracia B et al.

Biorxiv : the Preprint Server for Biology, 2023

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s003.xlsx › Sheet1

Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation.

Sinha S et al.

Computational and Structural Biotechnology Journal, 2020

32257056 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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