Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.V1493L
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BRCA1

NM_007294.4:p.V1493L

Associated Papers

Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains.

Nagy G et al.

Plos One, 2023

37917606 (PubMed )
Supplement: pone.0293422.s008.xlsx › Table_S11.ClinVar_Details

BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

Alemar B et al.

Plos One, 2017

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Martelotto LG et al.

Genome Biology, 2014

25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2
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