Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G129V
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BRCA1

NM_007294.4:p.G129V

Associated Papers

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s006.xlsx › Sheet1

Functional characterization of somatic mutations in cancer using network-based inference of protein activity.

Alvarez MJ et al.

Nature Genetics, 2016

27322546 (PubMed )
Supplement: NIHMS789775-supplement-1.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

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

Pilarski R et al.

Journal of Medical Genetics, 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."