Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S3016A
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BRCA2

NM_000059.4:p.S3016A

Associated Papers

Functional evaluation and clinical classification of BRCA2 variants.

Huang H et al.

Nature, 2025

39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4C

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.

Richardson ME et al.

American Journal of Human Genetics, 2021

33609447 (PubMed )
Supplement: mmc2.xlsx › Sheet1

BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis.

Mondal G et al.

Developmental Cell, 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."