Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D232Y
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BRCA1

NM_007294.4:p.D232Y

Associated Papers

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_1.xlsx › Sheet1

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Moles-Fernández A et al.

Cancers, 2021

34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A

Next-Generation Sequencing Identifies BRCA1 and/or BRCA2 Mutations in Women at High Hereditary Risk for Breast Cancer with Shorter Telomere Length.

Peker Eyüboğlu İ et al.

Omics : a Journal of Integrative Biology, 2020

BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation.

Tammaro C et al.

International Journal of Molecular Sciences, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."