Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R248L
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ATM

NM_000051.4:p.R248L

Associated Papers

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › TP53

Overcoming therapeutic resistance in pancreatic cancer: Emerging opportunities by targeting BRCAs and p53.

Calheiros J et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2023

A framework for individualized splice-switching oligonucleotide therapy.

Kim J et al.

Nature, 2023

37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_1

Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.

Liu ZJ et al.

Frontiers in Pediatrics, 2023

Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.

Hurník P et al.

Frontiers in Oncology, 2023

38188288 (PubMed )
Supplement: Table_5.xlsx › S5

Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.

Pourahmadiyan A et al.

The International Journal of Neuroscience, 2022

Myoclonus-Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite.

Ganguly J et al.

Movement Disorders Clinical Practice, 2022

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_15.xlsx › Sheet1

Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.

Kim M et al.

Clinical Neurology and Neurosurgery, 2020

Concurrent TP53 and CDKN2A Gene Aberrations in Newly Diagnosed Mantle Cell Lymphoma Correlate with Chemoresistance and Call for Innovative Upfront Therapy.

Malarikova D et al.

Cancers, 2020

32751805 (PubMed )
Supplement: cancers-12-02120-s001.pdf

Combined PARP and ATR inhibition potentiates genome instability and cell death in ATM-deficient cancer cells.

Lloyd RL et al.

Oncogene, 2020

32444694 (PubMed )
Supplement: 41388_2020_1328_MOESM2_ESM.xlsx › Supplementary_table_1

SMARCA4 deficiency-associated heterochromatin induces intrinsic DNA replication stress and susceptibility to ATR inhibition in lung adenocarcinoma.

Kurashima K et al.

Nar Cancer, 2020

34316685 (PubMed )
Supplement: narcancer_2_2_zcaa005_s8.pdf

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Schon K et al.

Annals of Neurology, 2019

30549301 (PubMed )
Supplement: ANA-85-170-s001.pdf

Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.

Yi D et al.

Human Genomics, 2019

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

Functional characterization of somatic mutations in cancer using network-based inference of protein activity.

Alvarez MJ et al.

Nature Genetics, 2016

27322546 (PubMed )
Supplement: NIHMS789775-supplement-1.pdf

Complex analysis of the p53 tumor suppressor in lung carcinoma.

Smardova J et al.

Oncology Reports, 2016

Ataxia telangiectasia: more variation at clinical and cellular levels.

Taylor AM et al.

Clinical Genetics, 2015

Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia.

Cummins G et al.

Parkinsonism & Related Disorders, 2013

Bilateral Deep Brain Stimulation of the Globus Pallidus Pars Interna in a Patient with Variant Ataxia-Telangiectasia.

Georgiev D et al.

Movement Disorders Clinical Practice, 0

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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."