Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R3047Q
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ATM

NM_000051.4:p.R3047Q

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population.

Sini MC et al.

Journal of Translational Medicine, 2024

38280995 (PubMed )
Supplement: 12967_2024_4923_MOESM1_ESM.pdf

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S14

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

Neurodegeneration in ataxia-telangiectasia: Multiple roles of ATM kinase in cellular homeostasis.

Choy KR et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2018

Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Kong SL et al.

Oncotarget, 2017

28978093 (PubMed )
Supplement: oncotarget-08-68026-s002.xlsx › Table_S3

ATM functions at the peroxisome to induce pexophagy in response to ROS.

Zhang J et al.

Nature Cell Biology, 2015

Assessing Genetic Variants in Matched Biocompartments From Patients With Serous Ovarian Cancer.

Sanders BE et al.

Technology in Cancer Research & Treatment, 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."