Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Y2627H
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ATM

NM_000051.4:p.Y2627H

Associated Papers

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

Handoko et al.

Scientific Reports, 2025

40594369 (PubMed )
Supplement: 41598_2025_6096_MOESM8_ESM.zip › Supp_Data_6 › S5_SNV.xlsx › ATM

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

Functional classification of ATM variants in ataxia-telangiectasia patients.

Fiévet A et al.

Human Mutation, 2019

Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

Carranza D et al.

Neuromolecular Medicine, 2017

Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas.

Palomero T et al.

Nature Genetics, 2014

24413734 (PubMed )
Supplement: NIHMS549899-supplement-2.xlsx › Supplementary_Table_9

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

Jacquemin V et al.

European Journal of Human Genetics : Ejhg, 2012

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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."