Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S76P
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BRCA2

NM_000059.4:p.S76P

Associated Papers

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Thomassen M et al.

Human Mutation, 2022

35979650 (PubMed )
Supplement: HUMU-43-1921-s001.pdf

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Aljarf R et al.

Scientific Reports, 2022

35729312 (PubMed )
Supplement: 41598_2022_13508_MOESM2_ESM.xlsx › Sheet1

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

Mitochondrial DNA variants and risk of familial breast cancer: an exploratory study.

Tommasi S et al.

International Journal of Oncology, 2014

Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

Hansen TV et al.

Familial Cancer, 2011

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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."