Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S2414L
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BRCA2

NM_000059.4:p.S2414L

Associated Papers

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.

Fraile-Bethencourt E et al.

Frontiers in Genetics, 2019

31191615 (PubMed )
Supplement: Data_Sheet_1.PDF

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.

Ernst C et al.

Bmc Medical Genomics, 2018

29580235 (PubMed )
Supplement: 12920_2018_353_MOESM1_ESM.xlsx › Classified_Variant_Set

Functional assays for analysis of variants of uncertain significance in BRCA2.

Guidugli L et al.

Human Mutation, 2014

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

Guidugli L et al.

Cancer Research, 2013

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