Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.I2627V
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BRCA2

NM_000059.4:p.I2627V

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

In silico and structure-based assessment to classify VUS identified in the α-helical domain of BRCA2.

Khan MA et al.

Journal of Biomolecular Structure & Dynamics, 2023

36404616 (PubMed )
Supplement: supplement_1.pdf

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

BRCA1 and BRCA2 mutations and their clinical relevance in selected women diagnosed with triple-negative breast cancer in Kenya: a descriptive cross-sectional study.

Rioki JN et al.

The Pan African Medical Journal, 2023

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

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Khoruddin NA et al.

Scientific Reports, 2021

34373545 (PubMed )
Supplement: 41598_2021_95618_MOESM1_ESM.xlsx › Training_Dataset

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

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

Ikegami M et al.

Nature Communications, 2020

32444794 (PubMed )
Supplement: 41467_2020_16141_MOESM4_ESM.xlsx › Information_of_107_variants

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Hart SN et al.

Npj Breast Cancer, 2020

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