Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.W2830fs
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BRCA2

NM_000059.4:p.W2830fs

Associated Papers

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.

Baert A et al.

Human Mutation, 2018

Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.

Acedo A et al.

Human Mutation, 2015

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