Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.R1426*
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ATRX

NM_000489.6:p.R1426*

Associated Papers

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

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

MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors.

Miller AR et al.

Bmc Cancer, 2025

40849662 (PubMed )
Supplement: 12885_2025_14711_MOESM2_ESM.xlsx › TableS8_Probe_seq

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

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

MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.

Friker LL et al.

Acta Neuropathologica, 2025

39894875 (PubMed )
Supplement: 401_2025_2846_MOESM1_ESM.xlsx › Sheet1

Gene mutations linked to drug-resistant epilepsy in astrocytoma.

Phabphal K et al.

Frontiers in Neurology, 2025

40103938 (PubMed )
Supplement: Data_Sheet_1.PDF

A Novel Germline MUTYH Mutation (p.W156∗) in High-Grade Astrocytoma, IDH Mutant.

Zhang L et al.

Human Mutation, 2025

Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.

Bedics G et al.

Scientific Reports, 2023

37891325 (PubMed )
Supplement: 41598_2023_45786_MOESM2_ESM.xlsx › Table_S2

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Mutational landscape of cancer-driver genes across human cancers.

Sinkala M

Scientific Reports, 2023

37550388 (PubMed )
Supplement: 41598_2023_39608_MOESM6_ESM.xlsx › Sheet1

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

A pan-cancer landscape of telomeric content shows that RAD21 and HGF alterations are associated with longer telomeres.

Sharaf R et al.

Genome Medicine, 2022

35227290 (PubMed )
Supplement: 13073_2022_1029_MOESM1_ESM.xlsx › Table_S5_-_ATRX

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

Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.

Yuan T et al.

Frontiers in Oncology, 2021

34168983 (PubMed )
Supplement: DataSheet_2.xlsx › Tab_S3.clean_report

Application of Cluster Analysis of Time Evolution for Magnetic Resonance Imaging -Derived Oxygen Extraction Fraction Mapping: A Promising Strategy for the Genetic Profile Prediction and Grading of Glioma.

Shen N et al.

Frontiers in Neuroscience, 2021

34671241 (PubMed )
Supplement: Data_Sheet_1.ZIP › 736891_SupMaterial › Source_data › genomic_data › ____________.xlsx › snv

Characterizing temporal genomic heterogeneity in pediatric low-grade gliomas.

Lazow MA et al.

Acta Neuropathologica Communications, 2020

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

Sphere-Forming Culture for Expanding Genetically Distinct Patient-Derived Glioma Stem Cells by Cellular Growth Rate Screening.

Shin K et al.

Cancers, 2020

32120790 (PubMed )
Supplement: cancers-12-00549-s001.zip › cancers-663915-Supplementary_Tables_.xlsx › Table_S3

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

The effects of mutational processes and selection on driver mutations across cancer types.

Temko D et al.

Nature Communications, 2018

29748584 (PubMed )
Supplement: 41467_2018_4208_MOESM4_ESM.xlsx › Sheet1

PTEN regulates glioblastoma oncogenesis through chromatin-associated complexes of DAXX and histone H3.3.

Benitez JA et al.

Nature Communications, 2017

Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma.

Kannan K et al.

Oncotarget, 2012

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

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."