Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.R172T
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IDH2

NM_002168.4:p.R172T

Associated Papers

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

MAPK Pathway Mutations Emerge in Mutant-IDH1 Inhibitor-Resistant Cholangiocarcinoma and Attenuate the Interferon Response.

Wan J et al.

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

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

Genetic landscapes of breast tumors by next-generation sequencing with focus on less common types and genotype-phenotype correlations.

Hoda RS et al.

Human Pathology, 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

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

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 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

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

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

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

Dissecting the prognostic signature of patients with astrocytoma isocitrate dehydrogenase-mutant grade 4: a large multicenter, retrospective study.

Dipasquale A et al.

Esmo Open, 2024

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

Gunn K et al.

Cold Spring Harbor Perspectives in Medicine, 2024

Genetic abnormalities assist in pathological diagnosis and EBV-positive cell density impact survival in Chinese angioimmunoblastic T-cell lymphoma patients.

Shi Y et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 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

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

Deciphering the spectrum of cutaneous lymphomas expressing TFH markers.

Donzel M 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

IDH2 -Mutated Sinonasal Tumors: A Review.

Alzumaili B et al.

Advances in Anatomic Pathology, 2023

Evaluation of two new highly multiplexed PCR assays as an alternative to next-generation sequencing for IDH1/2 mutation detection.

Favre L et al.

Molecular Oncology, 2022

Molecular Basis and Rationale for the Use of Targeted Agents and Immunotherapy in Sinonasal Cancers.

Esposito A et al.

Journal of Clinical Medicine, 2022

Effects of cancer-associated point mutations on the structure, function, and stability of isocitrate dehydrogenase 2.

Chen X et al.

Scientific Reports, 2022

IDH1/2 Mutations in Sinonasal Undifferentiated Carcinomas : Previously Undescribed IDH2 R172K and R140x Variants.

Kakkar A et al.

The American Journal of Surgical Pathology, 2022

A genetic model for central chondrosarcoma evolution correlates with patient outcome.

Cross W et al.

Genome Medicine, 2022

36042521 (PubMed )
Supplement: 13073_2022_1084_MOESM3_ESM.docx

Cancer-driving mutations are enriched in genic regions intolerant to germline variation.

Vitsios D et al.

Science Advances, 2022

36026442 (PubMed )
Supplement: sciadv.abo6371_tables_s1_to_s13.zip › sciadv.abo6371_tables_s1_to_s13.xlsx › S1

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST2

A Targeted Next-Generation Sequencing Panel to Genotype Gliomas.

Guarnaccia M et al.

Life (basel, Switzerland), 2022

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Gounder MM et al.

Nature Communications, 2022

35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple

An improved molecular inversion probe based targeted sequencing approach for low variant allele frequency.

Biezuner T et al.

Nar Genomics and Bioinformatics, 2022

35156021 (PubMed )
Supplement: lqab125_supplemental_files.zip › Supplementary_Table_S1.xlsx › hotspots

Mismatch Repair Deficiency and Somatic Mutations in Human Sinonasal Tumors.

Hieggelke L et al.

Cancers, 2021

34885191 (PubMed )
Supplement: cancers-13-06081-s001.zip › Table_S3_Targeted_panel_sequencing_result_of_sinonasal_tumor_cohort.pdf

Tall cell carcinoma with reversed polarity: case report with gene sequencing and literature review.

Wei Y et al.

Gland Surgery, 2021

The implications of IDH mutations for cancer development and therapy.

Pirozzi CJ et al.

Nature Reviews. Clinical Oncology, 2021

Mutation analysis links angioimmunoblastic T-cell lymphoma to clonal hematopoiesis and smoking.

Cheng S et al.

Elife, 2021

Association of TP53 Alteration with Tissue Specificity and Patient Outcome of IDH1-Mutant Glioma.

Murnyak B et al.

Cells, 2021

34440884 (PubMed )
Supplement: cells-10-02116-s001.zip › cells-1335464-supplementary › Supplementary_Tables.xlsx › Supplementary_Table_3

Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.

Bratslavsky G et al.

Cancers, 2021

34282751 (PubMed )
Supplement: cancers-13-03312-s001.zip › cancers-1207950-supplementary.xlsx › Sheet1

Prognostic importance of IDH mutations in chondrosarcoma: An individual patient data meta-analysis.

Vuong HG et al.

Cancer Medicine, 2021

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

Problematic breast tumors reassessed in light of novel molecular data.

Pareja F et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

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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."