Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.M1168I
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BRCA2

NM_000059.4:p.M1168I

Associated Papers

Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications.

Wee K et al.

Scientific Reports, 2025

40328872 (PubMed )
Supplement: 41598_2025_549_MOESM4_ESM.xlsx › Sheet_1

Prediction of pathogenic single amino acid substitutions using molecular fragment descriptors.

Zadorozhny A et al.

Bioinformatics (oxford, England), 2023

The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.

Yamazawa K et al.

Cancer Science, 2023

37067535 (PubMed )
Supplement: CAS-114-2993-s001.pdf

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

High-throughput functional evaluation of BRCA2 variants of unknown significance.

Ikegami M et al.

Nature Communications, 2020

Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.

Eoh KJ et al.

Cancer Research and Treatment, 2018

29020732 (PubMed )
Supplement: crt-2017-220-suppl2.xlsx › Sheet1

Molecular characterization of metastatic pancreatic neuroendocrine tumors (PNETs) using whole-genome and transcriptome sequencing.

Wong HL et al.

Cold Spring Harbor Molecular Case Studies, 2018

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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."