Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.R1739*
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ATRX

NM_000489.6:p.R1739*

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

The development of a custom RNA-sequencing panel for the identification of predictive and diagnostic biomarkers in glioma.

Shirai Y et al.

Journal of Neuro-oncology, 2024

38363490 (PubMed )
Supplement: 11060_2024_4563_MOESM1_ESM.xlsx › Supplementary_Data_2

Genomic characterization of IDH-mutant astrocytoma progression to grade 4 in the treatment setting.

Rautajoki KJ et al.

Acta Neuropathologica Communications, 2023

37932833 (PubMed )
Supplement: 40478_2023_1669_MOESM1_ESM.xlsx › Table_S15

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Villani A et al.

Nature Cancer, 2023

36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S5_-_Category_C_variants

Druggable genomic landscapes of high-grade gliomas.

Ghanem P et al.

Frontiers in Medicine, 2023

38143440 (PubMed )
Supplement: Table_1.xlsx › ST5

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

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

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

Telomere alterations in neurofibromatosis type 1-associated solid tumors.

Rodriguez FJ et al.

Acta Neuropathologica Communications, 2019

31462295 (PubMed )
Supplement: 40478_2019_792_MOESM1_ESM.pdf

Alternative lengthening of telomeres, ATRX loss and H3-K27M mutations in histologically defined pilocytic astrocytoma with anaplasia.

Rodriguez FJ et al.

Brain Pathology (zurich, Switzerland), 2019

Importance of Comprehensive Molecular Profiling for Clinical Outcome in Children With Recurrent Cancer.

Østrup O et al.

Frontiers in Pediatrics, 2018

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

Clinical, radiologic, and genetic characteristics of histone H3 K27M-mutant diffuse midline gliomas in adults.

Schulte JD et al.

Neuro-oncology Advances, 0

33354667 (PubMed )
Supplement: vdaa142_suppl_supplementary_tables.xlsx › Table_S1_NGS_SNV_indel_data

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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