Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E1991insFs
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ATM

NM_000051.4:p.E1991insFs

Associated Papers

Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.

Iyevleva AG et al.

International Journal of Molecular Sciences, 2025

41465280 (PubMed )
Supplement: ijms-26-11851-s001.zip › Supplementary_Table_1.xlsx › Supplementary_table_S1

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Multigene germline and somatic testing for epithelial ovarian cancer in China.

Li L et al.

Npj Precision Oncology, 2025

40804290 (PubMed )
Supplement: 41698_2025_1074_MOESM1_ESM.pdf

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Zhou SL et al.

Signal Transduction and Targeted Therapy, 2022

35078970 (PubMed )
Supplement: 41392_2021_838_MOESM2_ESM.xlsx › Table_S3

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Zhang Y et al.

Cell Reports, 2021

34788622 (PubMed )
Supplement: NIHMS1757901-supplement-2.xlsx › SNVs_indels

A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Hoyer K et al.

Ebiomedicine, 2021

33862582 (PubMed )
Supplement: mmc3.xlsx › S5

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s14.pdf

Cognitive phenotype in ataxia-telangiectasia.

Hoche F et al.

Pediatric Neurology, 2014

DNA repair alterations in children with pediatric malignancies: novel opportunities to identify patients at risk for high-grade toxicities.

Rübe CE et al.

International Journal of Radiation Oncology, Biology, Physics, 2010

Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age.

Kieslich M et al.

Cerebellum (london, England), 2010

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N et al.

Human Molecular Genetics, 1999

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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."