Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.D2870A
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ATM

NM_000051.4:p.D2870A

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

The kinase ATM delays Arabidopsis leaf senescence by stabilizing the phosphatase MKP2 in a phosphorylation-dependent manner.

Zhang Y et al.

The Plant Cell, 2025

ATM inhibition enhances the efficacy of radiation across distinct molecular subgroups of pediatric high-grade glioma.

Xie J et al.

Neuro-oncology, 2023

Structural insights into the activation of ataxia-telangiectasia mutated by oxidative stress.

Howes AC et al.

Science Advances, 2023

37756394 (PubMed )
Supplement: sciadv.adi8291_sm.pdf

Participation of ATM, SMG1, and DDX5 in a DNA Damage-Induced Alternative Splicing Pathway.

McCann JJ et al.

Radiation Research, 2023

Targeted Mutational Analysis of Circulating Tumor DNA to Decipher Temporal Heterogeneity of High-Grade Serous Ovarian Cancer.

Paracchini L et al.

Cancers, 2022

35954363 (PubMed )
Supplement: cancers-14-03697-s001.zip › cancers-1796307-supplementary › Supplementary › Supplementary_Table_S4.xlsx › Sheet1

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Putti S et al.

Cancers, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

ATM-associated signalling triggers the unfolded protein response and cell death in response to stress.

Hotokezaka Y et al.

Communications Biology, 2020

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

Loss of ATM kinase activity leads to embryonic lethality in mice.

Daniel JA et al.

The Journal of Cell Biology, 2012

Kinase-dead ATM protein causes genomic instability and early embryonic lethality in mice.

Yamamoto K et al.

The Journal of Cell Biology, 2012

Structural mechanism of the phosphorylation-dependent dimerization of the MDC1 forkhead-associated domain.

Liu J et al.

Nucleic Acids Research, 2012

ATM protein physically and functionally interacts with proliferating cell nuclear antigen to regulate DNA synthesis.

Gamper AM et al.

The Journal of Biological Chemistry, 2012

Identification of domains of ataxia-telangiectasia mutated required for nuclear localization and chromatin association.

Young DB et al.

The Journal of Biological Chemistry, 2005

Autophosphorylation of ataxia-telangiectasia mutated is regulated by protein phosphatase 2A.

Goodarzi AA et al.

The Embo Journal, 2004

ATM-dependent phosphorylation of human Rad9 is required for ionizing radiation-induced checkpoint activation.

Chen MJ et al.

The Journal of Biological Chemistry, 2001

Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products.

Zhao S et al.

Nature, 2000

Expression and assay of recombinant ATM.

Ziv Y et al.

Methods in Molecular Biology (clifton, N.j.), 2000

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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."