Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R1150T
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ATM

NM_000051.4:p.R1150T

Associated Papers

Association of Specific Gene Mutations with Immunoglobulin Heavy-Chain Variable Region and Chromosomal Alterations in Chronic Lymphocytic Leukemia Patients in India.

Mani S et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2025

Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.

Chow RD et al.

Npj Precision Oncology, 2024

39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4

Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors.

Dashti M et al.

Frontiers in Cellular and Infection Microbiology, 2024

Genomic characterization of metastatic castration-resistant prostate cancer patients undergoing PSMA radioligand therapy: A single-center experience.

Satapathy S et al.

The Prostate, 2023

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S14

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.

Holla VV et al.

Journal of Movement Disorders, 2022

35287262 (PubMed )
Supplement: jmd-21146-suppl3.pdf

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

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

Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.

Tausch E et al.

Haematologica, 2020

33054084 (PubMed )
Supplement: 2019.229161.TAUSCH_SUPPL.pdf

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Shao D et al.

Cancer Science, 2020

31742824 (PubMed )
Supplement: CAS-111-647-s002.xlsx › VUS_with_high_level_of_evidence

Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening.

Kadri MSN et al.

Frontiers in Oncology, 2020

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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."