Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.D2913Y
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ATM

NM_000051.4:p.D2913Y

Associated Papers

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework.

Hanenberg H et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Computational Analysis of Non-synonymous SNPs in ATM Kinase: Structural Insights, Functional Implications, and Inhibitor Discovery.

Panchal NK et al.

Molecular Biotechnology, 2025

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

Lee DJ et al.

European Urology, 2022

34711450 (PubMed )
Supplement: NIHMS1772233-supplement-Supplementary_Tables.xlsx › TableS4

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_5.xlsx › Sheet1

Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.

Karlsson Q et al.

European Urology Oncology, 2021

33436325 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Functional classification of ATM variants in ataxia-telangiectasia patients.

Fiévet A et al.

Human Mutation, 2019

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 2019

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

Jacquemin V et al.

European Journal of Human Genetics : Ejhg, 2012

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

Micol R et al.

The Journal of Allergy and Clinical Immunology, 2011

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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."