Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Y1769*
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BRCA1

NM_007294.4:p.Y1769*

Associated Papers

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Herzog JS et al.

Npj Breast Cancer, 2021

34413315 (PubMed )
Supplement: 41523_2021_317_MOESM1_ESM.xlsx › Table_S2_PVs__n_236_

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Woods NT et al.

Npj Genomic Medicine, 2016

28781887 (PubMed )
Supplement: npjgenmed20161-s5.xls › Supp_Table_S3

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

Carvalho RS et al.

Plos One, 2014

24845084 (PubMed )
Supplement: pone.0097766.s002.xlsx › Supplementary_Materials_2

Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation.

Hayes F et al.

Cancer Research, 2000

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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."