Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q2002*
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ATM

NM_000051.4:p.Q2002*

Associated Papers

Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.

Jiang Y et al.

Cell Communication and Signaling : Ccs, 2025

40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

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: Table6.XLSX › Sheet1

Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Park JS et al.

Cancer Research and Treatment, 2022

Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families.

Cavaciuti E et al.

Genes, Chromosomes & Cancer, 2005

ATM polymorphisms as risk factors for prostate cancer development.

Angèle S et al.

British Journal of Cancer, 2004

Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

Gutiérrez-Enríquez S et al.

Genes, Chromosomes & Cancer, 2004

Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers.

Fernet M et al.

British Journal of Cancer, 2004

Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling.

Özdemir Z et al.

Mutation Research, 0

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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."