Varaico: Literature-Extracted Genetic Variants

Gene:RAD50
Variant:p.R193W
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RAD50

NM_005732.4:p.R193W

Associated Papers

Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.

Rostami MR et al.

Molecular Therapy. Methods & Clinical Development, 2023

38089635 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_III

In Silico-Based Structural Evaluation to Categorize the Pathogenicity of Mutations Identified in the RAD Class of Proteins.

Anwaar A et al.

Acs Omega, 2023

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.

Suszynska M et al.

Journal of Ovarian Research, 2020

Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma.

Heilmann AM et al.

Oncology, 2016

RAD50 gene mutations are not likely a risk factor for breast cancer in Poland.

Mosor M et al.

Breast Cancer Research and Treatment, 2010

Evaluation of RAD50 in familial breast cancer predisposition.

Tommiska J et al.

International Journal of Cancer, 2006

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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."