Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1164I
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BRCA1

NM_007294.4:p.S1164I

Associated Papers

Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.

Bellè F et al.

International Journal of Molecular Sciences, 2022

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_4.xlsx › Sheet1

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31911673 (PubMed )
Supplement: 41436_2019_740_MOESM2_ESM.xlsx › 1._Used_in_analysis

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

Polo-like kinase 1 mediates BRCA1 phosphorylation and recruitment at DNA double-strand breaks.

Chabalier-Taste C et al.

Oncotarget, 2016

The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches.

D'Argenio V et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

Characterisation of gene expression profiles of yeast cells expressing BRCA1 missense variants.

Di Cecco L et al.

European Journal of Cancer (oxford, England : 1990), 2009

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

Caligo MA et al.

Human Mutation, 2009

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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."