Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K3016Q
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ATM

NM_000051.4:p.K3016Q

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

Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia.

Nurieva W et al.

Stem Cell Research, 2023

STK38 promotes ATM activation by acting as a reader of histone H4 ufmylation.

Qin B et al.

Science Advances, 2020

SIRT7-mediated ATM deacetylation is essential for its deactivation and DNA damage repair.

Tang M et al.

Science Advances, 2019

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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."