Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.G2281V
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BRCA2

NM_000059.4:p.G2281V

Associated Papers

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.

Benet-Pagès A et al.

Genetics in Medicine Open, 2025

40027238 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

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

Biswas K et al.

Npj Genomic Medicine, 2020

33293522 (PubMed )
Supplement: 41525_2020_158_MOESM1_ESM.pdf

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.

Meulemans L et al.

Cancer Research, 2020

Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools.

Grodecká L et al.

Plos One, 2014

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky N et al.

F1000research, 2014

25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
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