Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E227K
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BRCA1

NM_007294.4:p.E227K

Associated Papers

RAD18 directs DNA double-strand break repair by homologous recombination to post-replicative chromatin.

Palek M et al.

Nucleic Acids Research, 2024

38884202 (PubMed )
Supplement: gkae499_supplemental_files.zip › Supplementary_Figures-RESUBMISSION-corrected2.pdf

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_2.xlsx › Sheet1

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
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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."