Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.D2611G
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BRCA2

NM_000059.4:p.D2611G

Associated Papers

Saturation genome editing-based clinical classification of BRCA2 variants.

Sahu S et al.

Nature, 2025

Functional evaluation and clinical classification of BRCA2 variants.

Huang H et al.

Nature, 2025

39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S5A

The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.

Yamazawa K et al.

Cancer Science, 2023

37067535 (PubMed )
Supplement: CAS-114-2993-s001.pdf

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

A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Biswas K et al.

Npj Genomic Medicine, 2020

High-throughput functional evaluation of BRCA2 variants of unknown significance.

Ikegami M et al.

Nature Communications, 2020

32444794 (PubMed )
Supplement: 41467_2020_16141_MOESM6_ESM.xlsx › Information_of_244_variants

In silico analysis for determining the deleterious nonsynonymous single nucleotide polymorphisms of BRCA genes.

Yadegari F et al.

Molecular Biology Research Communications, 2019

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA2_ethnic_sources_

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

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

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

Prevalence of BRCA mutations and founder effect in high-risk Hispanic families.

Weitzel JN et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

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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."