Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S1893A
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ATM

NM_000051.4:p.S1893A

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

Functional assessment of all ATM SNVs using prime editing and deep learning.

Lee KS et al.

Cell, 2025

Smad7 enhances ATM activity by facilitating the interaction between ATM and Mre11-Rad50-Nbs1 complex in DNA double-strand break repair.

Park S et al.

Cellular and Molecular Life Sciences : Cmls, 2015

Multifunctional role of ATM/Tel1 kinase in genome stability: from the DNA damage response to telomere maintenance.

Di Domenico EG et al.

Biomed Research International, 2014

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

Yamamoto K et al.

The Journal of Cell Biology, 2012

Autophosphorylation and ATM activation: additional sites add to the complexity.

Kozlov SV et al.

The Journal of Biological Chemistry, 2011

Dynamics of the PI3K-like protein kinase members ATM and DNA-PKcs at DNA double strand breaks.

Davis AJ et al.

Cell Cycle (georgetown, Tex.), 2010

ATM and the Mre11 complex combine to recognize and signal DNA double-strand breaks.

Lavin MF

Oncogene, 2007

DNA damage-induced signalling in ataxia-telangiectasia and related syndromes.

Lavin MF et al.

Radiotherapy and Oncology : Journal of the European Society for Therapeutic Radiology and Oncology, 2007

ATM activation and DNA damage response.

Lavin MF et al.

Cell Cycle (georgetown, Tex.), 2007

Involvement of novel autophosphorylation sites in ATM activation.

Kozlov SV et al.

The Embo Journal, 2006

Recognition, signaling, and repair of DNA double-strand breaks produced by ionizing radiation in mammalian cells: the molecular choreography.

Thompson LH

Mutation Research, 0

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