Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S313Y
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BRCA2

NM_000059.4:p.S313Y

Associated Papers

BCL-2 (-938C>A), BAX (-248G>A), and HER2 Ile655Val Polymorphisms and Breast Cancer Risk in Indian Population.

Bhatt D et al.

Journal of Oncology, 2021

Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Sun P et al.

Bmc Cancer, 2020

33054725 (PubMed )
Supplement: 12885_2020_7481_MOESM3_ESM.xlsx › Sheet1

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN et al.

Npj Genomic Medicine, 2020

32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf

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

The relationship between eight GWAS-identified single-nucleotide polymorphisms and primary breast cancer outcomes.

Bayraktar S et al.

The Oncologist, 2013

[Association of polymorphic markers of CASP8, BCL2 and BAX genes with aging and longevity].

Erdman VV et al.

Advances in Gerontology = Uspekhi Gerontologii, 2012

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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."