Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E2423G
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ATM

NM_000051.4:p.E2423G

Associated Papers

Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.

Lampson BL et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2023

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_2.xlsx › Sheet1

Cryo-EM Structure of Nucleotide-Bound Tel1ATM Unravels the Molecular Basis of Inhibition and Structural Rationale for Disease-Associated Mutations.

Yates LA et al.

Structure (london, England : 1993), 2020

31740029 (PubMed )
Supplement: mmc1.pdf

Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

George Priya Doss C et al.

Plos One, 2012

ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances.

Camacho E et al.

Blood, 2002

The ATM gene in the pathogenesis of mantle-cell lymphoma.

Stilgenbauer S et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 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."