Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.K2594R
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BRCA2

NM_000059.4:p.K2594R

Associated Papers

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

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Scott A et al.

Genome Biology, 2022

36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM4_ESM.xlsx › msh2_som_mis_suppl

Technical Evaluation of Commercial Mutation Analysis Platforms and Reference Materials for Liquid Biopsy Profiling.

Weber S et al.

Cancers, 2020

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.

Fraile-Bethencourt E et al.

Frontiers in Genetics, 2018

29881398 (PubMed )
Supplement: Table_1.xlsx › Sheet1

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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