Varaico: Literature-Extracted Genetic Variants

Gene:RAD50
Variant:p.S653*
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RAD50

NM_005732.4:p.S653*

Associated Papers

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.

Thibaud S et al.

Blood Cancer Discovery, 2024

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

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

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.

Lim BWX et al.

Journal of the National Cancer Institute, 2023

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

RAD50 Loss of Function Variants in the Zinc Hook Domain Associated with Higher Risk of Familial Esophageal Squamous Cell Carcinoma.

Ko JMY et al.

Cancers, 2021

Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine.

Aguirre AJ et al.

Cancer Discovery, 2018

Pancreatic cancer as a sentinel for hereditary cancer predisposition.

Young EL et al.

Bmc Cancer, 2018

29945567 (PubMed )
Supplement: 12885_2018_4573_MOESM1_ESM.xlsx › Supplemental_Table_2
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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."