Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.R172K
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IDH2

NM_002168.4:p.R172K

Associated Papers

A Case of IDH-Mutant Astrocytoma Harboring an IDH2 R172_H173delinsSN Variant.

Auen T et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2026

Portable duplex digital PCR for on-site detection of IDH mutations in gliomas.

Jung D et al.

Biosensors & Bioelectronics, 2026

Single-cell profiling reveals reprogrammed hierarchy and disrupted immune-stromal ecosystem in TP53-mutated AML.

Qiu G et al.

Experimental Hematology & Oncology, 2026

41634865 (PubMed )
Supplement: 40164_2026_751_MOESM3_ESM.xlsx › Sheet1

Isocitrate Dehydrogenase Inhibitors in Acute Myeloid Leukemia.

Dai Q et al.

Chemistry & Biodiversity, 2026

Diffuse low-grade glioma with a rare BRAF p.T599dup mutation in a child: importance of clinicopathological and molecular correlation.

Yamada S et al.

Brain Tumor Pathology, 2026

Evaluation of the Idylla IDH1-2 Mutation Assay for the Detection of IDH Variants in Solid Tumors and Hematological Malignancies.

Gilson P et al.

International Journal of Molecular Sciences, 2026

Unravelling co-mutational patterns with prognostic implications in NPM1 mutated adult acute myeloid leukemia - a HARMONY study.

Hernández-Sánchez A et al.

Leukemia, 2026

New and Emerging Therapies for Patients with Low-Grade Glioma.

Peters KB

Cns Drugs, 2026

Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.

Regan JA et al.

Plos One, 2026

41666166 (PubMed )
Supplement: pone.0339491.s009.xlsx › S2_Table

Tall cell carcinoma with reversed polarity of the breast harbouring IDH1 hotspot mutation: morphologic, immunohistochemical and genetic characterization of two cases.

Krings G et al.

Histopathology, 2025

Integrative machine learning-guided in silico and in vitro approach reveals selective small molecule inhibitors targeting mutant IDH1.

Bajaj M et al.

Rsc Advances, 2025

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

Novel NUTM1 Fusions in Relapsed Acute Myeloid Leukemia: Expanding the Genetic and Clinical Landscape.

Tizro P et al.

International Journal of Molecular Sciences, 2025

Final Results from a First-in-Human Phase I Study of the Dual Isocitrate Dehydrogenase (IDH) 1/2 Inhibitor, LY3410738, in Advanced Solid Tumors Harboring IDH1 or IDH2 Mutations.

Harding JJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.

Lv C et al.

Nature Aging, 2025

41286462 (PubMed )
Supplement: 43587_2025_1017_MOESM4_ESM.xlsx › Sheet1

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.

Krigstein M et al.

Annals of Laboratory Medicine, 2025

41277019 (PubMed )
Supplement: ALM3692_Supple1.xlsx › Reference_Standard

IDH2 mutation is associated with favorable outcome among older adults with newly diagnosed acute myeloid leukemia treated with hypomethylating agent-based therapy.

Hoff FW et al.

Haematologica, 2025

Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.

Morote-Faubel M et al.

Human Genomics, 2025

41189001 (PubMed )
Supplement: 40246_2025_842_MOESM1_ESM.pdf

Differential impact of IDH1/2 mutations on outcome in adult acute myeloid leukemia patients.

Yang W et al.

Cancer Genetics, 2025

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

Improved Detection of Minimal Residual Disease in AML: Validation of IDH1/2 ddPCR Assays in the Perspective of Treatment with Target Inhibitors.

Nikitsenka K et al.

International Journal of Molecular Sciences, 2025

Utility of IDH1/2 mutations as biomarkers for detection of measurable residual disease in acute myeloid leukemia.

Boertjes EL et al.

Blood Advances, 2025

Characterization of the mutational status of glioblastoma and high-grade astrocytomas in a Latin American cohort.

Fernández-Gajardo R et al.

Scientific Reports, 2025

Ultra-Fast Intraoperative IDH-Mutation Analysis Enables Rapid Stratification and Therapy Planning in Diffuse Gliomas.

Kraus TFJ et al.

International Journal of Molecular Sciences, 2025

Integrative Genomic and Transcriptomic Analysis Reveals Targetable Vulnerabilities in Angioimmunoblastic T-Cell Lymphoma.

Bouska A et al.

American Journal of Hematology, 2025

Analysis of IDH1 and IDH2 mutations as causes of the hypermethylator phenotype in colorectal cancer.

Ward JC et al.

The Journal of Pathology, 2025

Integrating genomic and transcriptome features for characterization and prognostic prediction of angioimmunoblastic T-cell lymphoma.

Wei C et al.

Annals of Hematology, 2025

40906017 (PubMed )
Supplement: 277_2025_6589_MOESM3_ESM.xlsx › Sheet1

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S4

MutationAssessor in cBioPortal.

Su Y et al.

Biorxiv : the Preprint Server for Biology, 2025

40832239 (PubMed )
Supplement: media-1.pdf

Impact of IDH Mutations on Ligand Unbinding: Insights from Steered Molecular Dynamics.

Singh A et al.

Current Topics in Medicinal Chemistry, 2025

Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.

Esai Selvan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40778119 (PubMed )
Supplement: media-2.pdf

The expanding spectrum of T-cell lymphomas with follicular helper T-cell phenotype and implications for differential diagnoses: A report of the 2023 SH/EA4HP Lymphoma Workshop.

Dogan A et al.

American Journal of Clinical Pathology, 2025

Clinicopathological and Molecular Profiling of Adult-Type Diffuse Glioma Using Immunohistochemistry and Real-Time Polymerase Chain Reaction: Study from a Tertiary Care Cancer Center in Western India.

Kaur K et al.

Neurology India, 2025

TP53 and CDKN2A alterations define a poor prognostic subgroup in patients with nodal T follicular helper cell lymphoma.

Ito Y et al.

Leukemia, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

R-2-hydroxyglutarate-mediated inhibition of KDM4A compromises telomere integrity.

Couteau F et al.

Nucleic Acids Research, 2025

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc3.xlsx › All

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

Mutant IDH1 cooperates with NPM1c or FLT3ITD to drive distinct myeloid diseases and molecular outcomes.

Sakamoto T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40377995 (PubMed )
Supplement: pnas.2415779122.sapp.pdf

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S2

Frank Invasion in Tall Cell Carcinoma With Reversed Polarity of the Breast: Report of Two Cases.

Han R et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Biological and Clinical Relevance of Genetic Alterations in Peripheral T-cell Lymphomas.

Ito Y et al.

Jma Journal, 2025

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › 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."