Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D214Y
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BRCA1

NM_007294.4:p.D214Y

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

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s007.xlsx › Sheet1

Characterization of BRCA1-deficient premalignant tissues and cancers identifies Plekha5 as a tumor metastasis suppressor.

Liu J et al.

Nature Communications, 2020

32978388 (PubMed )
Supplement: 41467_2020_18637_MOESM5_ESM.xlsx › Bulk
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