Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.G1712E
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BRCA2

NM_000059.4:p.G1712E

Associated Papers

Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.

Deugd R et al.

Diseases (basel, Switzerland), 2025

40710012 (PubMed )
Supplement: diseases-13-00222-s001.zip › diseases-3616972-supplementary.pdf

Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.

Akbar F et al.

Hereditary Cancer in Clinical Practice, 2022

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_S3_VUS__n_287_

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Razavi P et al.

Nature Medicine, 2019

31768066 (PubMed )
Supplement: NIHMS1541314-supplement-1541314_SourceDataFig1.xlsx › Fig_1e
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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."