Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S3020C
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BRCA2

NM_000059.4:p.S3020C

Associated Papers

Functional evaluation and clinical classification of BRCA2 variants.

Huang H et al.

Nature, 2025

39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4C

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Iversen ES et al.

Npj Genomic Medicine, 2022

35665744 (PubMed )
Supplement: 41525_2022_302_MOESM3_ESM.xlsx › BRCA2_inSilico_PCs___AGVGD

Variomes: a high recall search engine to support the curation of genomic variants.

Pasche E et al.

Bioinformatics (oxford, England), 2022

35274687 (PubMed )
Supplement: btac146_supplementary_data.pdf

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.

Richardson ME et al.

American Journal of Human Genetics, 2021

33609447 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Hart SN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.

Ernst C et al.

Bmc Medical Genomics, 2018

29580235 (PubMed )
Supplement: 12920_2018_353_MOESM1_ESM.xlsx › Classified_Variant_Set

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.

Guidugli L et al.

American Journal of Human Genetics, 2018

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

Guidugli L et al.

Cancer Research, 2013

BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis.

Mondal G et al.

Developmental Cell, 2012

Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.

Rath MG et al.

Breast Cancer Research and Treatment, 2012

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

Karchin R et al.

Cancer Informatics, 2008

19043619 (PubMed )
Supplement: cin-6-0203-s1.pdf

Breast cancer genetics in African Americans.

Olopade OI et al.

Cancer, 2003

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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."