Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.R172M
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IDH2

NM_002168.4:p.R172M

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

Histopathological associations, molecular findings and clinical outcomes of patients with non-small cell lung carcinoma with MET alterations: a 3-year retrospective Australian case series.

Li JJ et al.

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

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

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

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

A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.

Xiong D et al.

Nature Biotechnology, 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

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

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: mmc6.xlsx › Sheet_1

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

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST_4

Evaluation of an IDH1/2 Mutation FastTrack Assay for Patients with Cholangiocarcinoma.

Winter M et al.

Cancers, 2025

Multisite clinical cross-validation and variant interpretation of a next generation sequencing panel for lymphoid cancer prognostication.

Sabatini PJB et al.

Journal of Clinical Pathology, 2025

38182402 (PubMed )
Supplement: jcp-78-3-s002.xlsx › Supplementary_Table_2

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.

Regan JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39867361 (PubMed )
Supplement: media-1.xlsx › Supplemental_Table_2

Integrating molecular profiling into glioma diagnosis: implications of the WHO-CNS5-2021 classification of adult-type diffuse gliomas in Colombian patients.

Echeverría O et al.

Frontiers in Neurology, 2025

Rapid intraoperative amplicon sequencing of CNS tumor markers.

Evers M et al.

Computational and Structural Biotechnology Journal, 2024

39606159 (PubMed )
Supplement: mmc1.docx

bamSliceR: a Bioconductor package for rapid, cross-cohort variant and allelic bias analysis.

Huang YP et al.

Biorxiv : the Preprint Server for Biology, 2024

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

IDH Mutations in Glioma: Molecular, Cellular, Diagnostic, and Clinical Implications.

Choate KA et al.

Biology, 2024

Rare dual-genotype IDH mutant glioma: Review of previously reported cases and two new cases of true "oligoastrocytoma".

Sutherland I et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2024

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM1_ESM.pdf

Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.

Demajo S et al.

Cancer Discovery, 2024

38722595 (PubMed )
Supplement: cd-23-1416_supplementary_table_s1_suppst1.xlsx › Sheet1

Targeting Isocitrate Dehydrogenase (IDH) in Solid Tumors: Current Evidence and Future Perspectives.

Carosi F et al.

Cancers, 2024

Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.

Inoue S et al.

Jacc. Basic to Translational Science, 2024

39297129 (PubMed )
Supplement: mmc1.pdf

TP53 and KMT2D mutations associated with worse prognosis in peripheral T-cell lymphomas.

Wang L et al.

Cancer Medicine, 2024

Methylation-Based Characterization of a New IDH2 Mutation in Sinonasal Undifferentiated Carcinoma.

Burgermeister S et al.

International Journal of Molecular Sciences, 2024

Clinical and imaging characteristics of supratentorial glioma with IDH2 mutation.

Ikeda S et al.

Neuroradiology, 2024

Evaluation of the rapid Idylla IDH1-2 mutation assay in FFPE glioma samples.

Solomon JP et al.

Diagnostic Pathology, 2024

Isocitrate Dehydrogenase Mutations in Cancer: Mechanisms of Transformation and Metabolic Liability.

Gunn K et al.

Cold Spring Harbor Perspectives in Medicine, 2024

Subclonal Cancer Driver Mutations Are Prevalent in the Unresected Peritumoral Edema of Adult Diffuse Gliomas.

Underhill HR et al.

Cancer Research, 2024

Intratumoral heterogeneity of CDKN2A deletions in IDH-mutant astrocytoma.

Masui K et al.

Brain Tumor Pathology, 2024

IDH1 mutation predicts seizure occurrence and prognosis in lower-grade glioma adults.

Tang T et al.

Pathology, Research and Practice, 2024

A Retrospective Genomic Landscape of 661 Young Adult Glioblastomas Diagnosed Using 2016 WHO Guidelines for Central Nervous System Tumors.

Haberberger JF et al.

The Oncologist, 2024

Aggressive renal cell carcinoma with biphasic papillary and solid clear cell features harboring IDH2 (R172M) mutation.

Zhao M et al.

Pathology, Research and Practice, 2024

Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center.

Tögel L et al.

Cancers, 2023

38136436 (PubMed )
Supplement: cancers-15-05892-s001.zip › Supplementary_Tables.xlsx › Table_S2

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Brain tumour genetic network signatures of survival.

Ruffle JK et al.

Brain : a Journal of Neurology, 2023

Rare variant associations with plasma protein levels in the UK Biobank.

Dhindsa RS et al.

Nature, 2023

37794183 (PubMed )
Supplement: 41586_2023_6547_MOESM4_ESM.zip › 2022-09-14560C-s4 › 2022-09-14560C-Supp_table_20_-_CH_qualifying_variant_list.xlsx › CH_qualifying_variants

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.

Yu Z et al.

The Journal of Clinical Investigation, 2023

37498674 (PubMed )
Supplement: jci-133-168597-s140.pdf

TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.

Johnson WT et al.

Blood Advances, 2023

37078708 (PubMed )
Supplement: BLOODA_ADV-2023-009953-mmc1.xlsx › S1D_AITL_mutations

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

Clonal hematopoiesis is associated with protection from Alzheimer's disease.

Bouzid H et al.

Nature Medicine, 2023

37322115 (PubMed )
Supplement: 41591_2023_2397_MOESM3_ESM.xlsx › Supplementary_Table_1

Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis.

Lee K et al.

Scientific Reports, 2023

Recurrent IDH2 Mutations in Salivary Gland Striated Duct Adenoma Define an Expanded Histologic Spectrum Distinct From Canalicular Adenoma.

Rooper LM et al.

The American Journal of Surgical Pathology, 2023

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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."