Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E286Q
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BRCA1

NM_007294.4:p.E286Q

Associated Papers

ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.

Temel SG et al.

International Journal of Molecular Sciences, 2026

Circulating Tumor DNA Profiling of a Diffuse Large B Cell Lymphoma Patient with Secondary Acute Myeloid Leukemia.

Kerle IA et al.

Cancers, 2022

35326522 (PubMed )
Supplement: cancers-14-01371-s001.zip › Supplemental_Table_S1_-_Mutations_identified_by_targeted_sequencing_of_plasma_DNA.xlsx › Supplemental_Table_1

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_15.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
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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."