Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L2427P
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ATM

NM_000051.4:p.L2427P

Associated Papers

ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.

Thorvaldsdottir B et al.

Leukemia, 2025

40275070 (PubMed )
Supplement: 41375_2025_2615_MOESM2_ESM.xlsx › Supplemental_Table_S3

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_8.xlsx › Sheet1

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.

Gordo G et al.

Clinical Genetics, 2018

Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Nadeu F et al.

Leukemia, 2018

28924241 (PubMed )
Supplement: leu2017291x4.xlsx › Table_S7

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

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM16_ESM.xlsx › WES_pairs_VAR___80_

Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.

Marsan E et al.

Neuropathology and Applied Neurobiology, 2018

Molecular neurobiology of mTOR.

Switon K et al.

Neuroscience, 2017

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

Lim JS et al.

Nature Medicine, 2015

ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.

Navrkalova V et al.

Haematologica, 2013

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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."