Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.I283V
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BRCA2

NM_000059.4:p.I283V

Associated Papers

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico.

Diaz-Zabala HJ et al.

Cancers, 2018

A Bayesian framework for efficient and accurate variant prediction.

Qian D et al.

Plos One, 2018

30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants

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

Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.

Dobričić J et al.

Journal of Human Genetics, 2013

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

Pettigrew CA et al.

Breast Cancer Research and Treatment, 2008

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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."