Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.R781*
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ATRX

NM_000489.6:p.R781*

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

Functional analysis of telomere maintenance mechanisms is more informative than immunohistochemistry for ATRX mutation interpretation in Gliomas.

Guerriau C et al.

Acta Neuropathologica Communications, 2025

41422096 (PubMed )
Supplement: 40478_2025_2164_MOESM1_ESM.xlsx › Feuil1

Oncogenic NFE2L2 mutations in plasma ctDNA and tumors are predictors and prognosticators of chemoradiation therapy in resectable esophageal squamous cell carcinoma.

Ko JM et al.

British Journal of Cancer, 2025

40781161 (PubMed )
Supplement: 41416_2025_3113_MOESM1_ESM.pdf

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

Response to capmatinib in a patient with neuroendocrine carcinoma of the gallbladder origin harboring MET amplification.

Yamamura S et al.

International Cancer Conference Journal, 2024

A new genomic framework to categorize pediatric acute myeloid leukemia.

Umeda M et al.

Nature Genetics, 2024

38212634 (PubMed )
Supplement: 41588_2023_1640_MOESM5_ESM.xlsx › Extended_data_Fig.1_source_data

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2b._All_genes

Detection of Glioma-Related Hotspot Mutations Through Sequencing of Cerebrospinal Fluid (CSF)-Derived Circulating Tumor DNA: A Pilot Study on CSF-Based Liquid Biopsy for Primary Spinal Cord Astrocytoma.

Cheng L et al.

Neurospine, 2023

37401089 (PubMed )
Supplement: ns-2346210-105-Supplementary-Table-2.xlsx › supplementary_Table_S2_

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2D

Mutational spectrum of ATRX aberrations in neuroblastoma and associated patient and tumor characteristics.

van Gerven MR et al.

Cancer Science, 2022

35384159 (PubMed )
Supplement: CAS-113-2167-s002.xlsx › Sheet1

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Umeda M et al.

Blood Cancer Discovery, 2022

35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S12_SNV_indel

Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.

Buccoliero AM et al.

Genes, 2022

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_3.xlsx › somatic_alterations

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.

Pappula AL et al.

Cancers, 2021

34503108 (PubMed )
Supplement: cancers-13-04299-s001.zip › Supplemental_Tables_final.xlsx › Table_S10

Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.

Bratslavsky G et al.

Cancers, 2021

34282751 (PubMed )
Supplement: cancers-13-03312-s001.zip › cancers-1207950-supplementary.xlsx › Sheet1

Mutations inhibiting KDM4B drive ALT activation in ATRX-mutated glioblastomas.

Udugama M et al.

Nature Communications, 2021

33972520 (PubMed )
Supplement: 41467_2021_22543_MOESM1_ESM.pdf

Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile.

Astolfi A et al.

Cancers, 2020

32751892 (PubMed )
Supplement: cancers-12-02126-s001.zip › cancers-864725-supple › cancers-864725-supple-proofed.xlsx › Table_S2

TIAM1 variants improve clinical outcome in neuroblastoma.

Sanmartín E et al.

Oncotarget, 2017

28423360 (PubMed )
Supplement: oncotarget-08-45286-s003.xlsx › Sheet1

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.

Behjati S et al.

Nature Communications, 2017

28643781 (PubMed )
Supplement: ncomms15936-s5.xlsx › Driver_list

Radiolabeled inhibitors as probes for imaging mutant IDH1 expression in gliomas: Synthesis and preliminary evaluation of labeled butyl-phenyl sulfonamide analogs.

Chitneni SK et al.

European Journal of Medicinal Chemistry, 2016

Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Pentsova EI et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016

27161972 (PubMed )
Supplement: supp_JCO.2016.66.6487_DS_2016.666487.xlsx › SNV__Indels

Disruption of wild-type IDH1 suppresses D-2-hydroxyglutarate production in IDH1-mutated gliomas.

Jin G et al.

Cancer Research, 2013

Frequent ATRX, CIC, FUBP1 and IDH1 mutations refine the classification of malignant gliomas.

Jiao Y et al.

Oncotarget, 2012

22869205 (PubMed )
Supplement: oncotarget-03-709-s001.pdf

TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.

Cantero D et al.

Neuro-oncology Advances, 0

32642724 (PubMed )
Supplement: vdz059_suppl_suplementary_table_2.xlsx › Supplementary_Table_2

The dominant TP53 hotspot mutation in IDH -mutant astrocytoma, R273C, has distinctive pathologic features and sex-specific prognostic implications.

Marker DF et al.

Neuro-oncology Advances, 0

35047821 (PubMed )
Supplement: vdab182_suppl_supplementary_table_s1.xlsx › Master

Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.

Rodriguez Almaraz E et al.

Neuro-oncology Advances, 0

40051658 (PubMed )
Supplement: vdaf024_suppl_supplementary_tables_s1-s4.xlsx › Table_S2
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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."