Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.R43Q
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NBN

NM_002485.5:p.R43Q

Associated Papers

A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.

Zhou Y et al.

Discover Oncology, 2025

40768092 (PubMed )
Supplement: 12672_2025_3361_MOESM1_ESM.xlsx › somatic

A novel role for the peptidyl-prolyl cis-trans isomerase Cyclophilin A in DNA-repair following replication fork stalling via the MRE11-RAD50-NBS1 complex.

Bedir M et al.

Embo Reports, 2024

38943005 (PubMed )
Supplement: 44319_2024_184_MOESM1_ESM.pdf

Genomic Characterization of Preclinical Prostate Cancer Cell Line Models.

Beatson EL et al.

International Journal of Molecular Sciences, 2024

Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells.

McPherson MT et al.

Cancers, 2020

33339169 (PubMed )
Supplement: cancers-12-03794-s001.pdf

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

Schiff M et al.

Molecular Genetics and Metabolism, 2013

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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."