Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.M1I
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ATM

NM_000051.4:p.M1I

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

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 › ATM_

Somatic loss of ATM is a late event in pancreatic tumorigenesis.

Paranal RM et al.

The Journal of Pathology, 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

The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.

Yang Y et al.

Bmc Urology, 2022

PALB2 Variants: Protein Domains and Cancer Susceptibility.

Nepomuceno TC et al.

Trends in Cancer, 2021

Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Vandekerkhove G et al.

Nature Communications, 2021

33420073 (PubMed )
Supplement: 41467_2020_20493_MOESM3_ESM.xlsx › Supplementary_Data_4

Ancestry-specific predisposing germline variants in cancer.

Oak N et al.

Genome Medicine, 2020

32471518 (PubMed )
Supplement: 13073_2020_744_MOESM2_ESM.xlsx › S5b.SomaticRNAseq

Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants.

Hutchings D et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

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

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Hänninen UA et al.

Plos Genetics, 2018

29522538 (PubMed )
Supplement: pgen.1007200.s003.xlsx › b

The vaccinia virus E8R gene product is required for formation of transcriptionally active virions.

Kato SE et al.

Virology, 2007

Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.

Lyly A et al.

Bmc Cell Biology, 2007

Nucleophosmin suppresses oncogene-induced apoptosis and senescence and enhances oncogenic cooperation in cells with genomic instability.

Li J et al.

Carcinogenesis, 2007

Three novel mutations in Japanese patients with 21-hydroxylase deficiency.

Usui T et al.

Hormone Research, 2004

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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."