Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.R1504*
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ATRX

NM_000489.6:p.R1504*

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

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.

Hidalgo-Gómez G et al.

Annals of Hematology, 2025

39843811 (PubMed )
Supplement: 277_2024_6151_MOESM1_ESM.xlsx › S1._Genetics_data

Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.

Varachev V et al.

International Journal of Molecular Sciences, 2024

39684714 (PubMed )
Supplement: ijms-25-13004-s001.zip › Table_S1._Examples_of_somatic_genetic_alterations_in_glioma_samples.xlsx › ____1

pRB immunostaining in the differential diagnosis between pleomorphic xanthoastrocytoma and glioblastoma with giant cells.

Barresi V et al.

Histopathology, 2022

35945679 (PubMed )
Supplement: HIS-81-661-s001.xlsx › Supplementary_Table_1

Characteristics of mismatch repair deficiency in sarcomas.

Doyle LA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.4_Deleterious_SNV__indels

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

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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