Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.R418*
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ATRX

NM_000489.6:p.R418*

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

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

Exceptional response to the ATR inhibitor, camonsertib, in a patient with ALT+ metastatic melanoma.

Ngoi NYL et al.

Npj Precision Oncology, 2025

IDH-mutant astrocytomas with primitive neuronal component have a distinct methylation profile and a higher risk of leptomeningeal spread.

Hinz F et al.

Acta Neuropathologica, 2025

39899075 (PubMed )
Supplement: 401_2025_2849_MOESM1_ESM.xlsx › Tabelle1

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.

Stundon JL et al.

Neuro-oncology, 2023

36541551 (PubMed )
Supplement: noac278_suppl_supplementary_table_s1.xlsx › Sheet_1

Druggable genomic landscapes of high-grade gliomas.

Ghanem P et al.

Frontiers in Medicine, 2023

38143440 (PubMed )
Supplement: Table_1.xlsx › ST5

Application of full-genome analysis to diagnose rare monogenic disorders.

Shieh JT et al.

Npj Genomic Medicine, 2021

34556655 (PubMed )
Supplement: 41525_2021_241_MOESM1_ESM.pdf

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › F_batch

Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs.

Seifert M et al.

Cancers, 2020

32604718 (PubMed )
Supplement: cancers-12-01696-s001.zip › Supporting_Tables_and_Figures › Table_S8_ExomeSeq_Predictions.xlsx › ATRX

Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Li H et al.

Frontiers in Oncology, 2020

33747896 (PubMed )
Supplement: Table_1.xlsx › Table_S2

APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Roper N et al.

Cell Reports, 2019

30840888 (PubMed )
Supplement: NIHMS1523294-supplement-6.xlsx › RA003

Pineal region glioblastomas display features of diffuse midline and non-midline gliomas.

D'Amico RS et al.

Journal of Neuro-oncology, 2018

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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."