Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.R2645G
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BRCA2

NM_000059.4:p.R2645G

Associated Papers

DNA binding is a defining feature of BRCA2 orthologs.

Chanteau A et al.

Trends in Biochemical Sciences, 2026

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_S4C

DSS1 restrains BRCA2's engagement with dsDNA for homologous recombination, replication fork protection, and R-loop homeostasis.

Huang Y et al.

Nature Communications, 2024

39152168 (PubMed )
Supplement: 41467_2024_51557_MOESM2_ESM.pdf

The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.

Alvaro-Aranda L et al.

Nucleic Acids Research, 2024

Correction to 'The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination'.

Unknown Author

Nucleic Acids Research, 2024

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

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Walker LC et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36865205 (PubMed )
Supplement: media-10.xlsx › Table_S2

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Martelotto LG et al.

Genome Biology, 2014

25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2
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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."