Varaico: Literature-Extracted Genetic Variants

Gene:RAD50
Variant:p.V683I
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RAD50

NM_005732.4:p.V683I

Associated Papers

Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.

Parra A et al.

Cancers, 2025

41514647 (PubMed )
Supplement: cancers-18-00139-s001.zip › cancers-4026395-supplementary-Table_S2.pdf

Clonal selection of hematopoietic stem cells after gene therapy for sickle cell disease.

Spencer Chapman M et al.

Nature Medicine, 2023

37973947 (PubMed )
Supplement: 41591_2023_2636_MOESM1_ESM.pdf

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

In silico analysis on the functional and structural impact of Rad50 mutations involved in DNA strand break repair.

Remali J et al.

Peerj, 2020

Multigene testing of moderate-risk genes: be mindful of the missense.

Young EL et al.

Journal of Medical Genetics, 2016

26787654 (PubMed )
Supplement: jmedgenet-2015-103398-s2.pdf

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

Damiola F et al.

Breast Cancer Research : Bcr, 2014

24894818 (PubMed )
Supplement: bcr3669-S1.xlsx › MRN_Combi_Rare__0.1__
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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."