Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.R140Q
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IDH2

NM_002168.4:p.R140Q

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

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

CALR-mutant myeloproliferative neoplasms: insights from next-generation sequencing.

Mroczkowska-Bękarciak A et al.

Journal of Applied Genetics, 2026

Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.

Iengar P et al.

Computational Biology and Chemistry, 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

Isocitrate Dehydrogenase Inhibitors in Acute Myeloid Leukemia.

Dai Q et al.

Chemistry & Biodiversity, 2026

Dual targeting of SLC25A51 and succinate dehydrogenase selectively depletes mitochondrial NAD+ to eradicate KRAS-driven AML.

Jia A et al.

Cell Metabolism, 2026

PRDM16 expression is an independent prognostic factor in AML with the double-mutant NPM1/FLT3-ITD genotype.

Stasik S et al.

Annals of Hematology, 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

FBXO11 suppression rewires an NPM1-centered interactome influencing the progression of myelodysplastic syndrome.

Niederkorn M et al.

The Journal of Clinical Investigation, 2026

41542766 (PubMed )
Supplement: jci-136-193636-s047.xlsx › Patient_samples

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

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

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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

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

Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.

Abel HJ et al.

The Journal of Molecular Diagnostics : Jmd, 2025

41016628 (PubMed )
Supplement: mmc14.xlsx › Sheet1

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S3_-_SNVs__small_INDELS

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

Integrated pathway analysis identifies prognostically relevant subtypes of glioblastoma characterized by abnormalities in multi-omics.

Zhang P et al.

Clinical and Translational Medicine, 2025

41292185 (PubMed )
Supplement: CTM2-15-e70517-s001.zip › Supplementary_Tables › Supplementary_Table_corresponding_to_Figure_10.xlsx › S27-Fig10

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 2025

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

DNMT3A R882H Is Not Required for Disease Maintenance in Primary Human AML, but Is Associated With Increased Leukemia Stem Cell Frequency.

Köhnke T et al.

Cancer Discovery, 2025

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

Discovery and structure-activity relationship study of novel hydantoin-based inhibitors targeting mutant isocitrate dehydrogenase 1 (mIDH1).

Luo D et al.

European Journal of Medicinal Chemistry, 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

A novel fumarate hydratase frameshift mutation in lung adenocarcinoma: A case report.

Nakagawa H et al.

Cancer Genetics, 2025

MALNC: a new mutant NPM1/IDH2R140 and PML-RARA-associated lncRNA with impact on AML cell proliferation, maturation and drug response.

Cozzi E et al.

Cancer Gene Therapy, 2025

40849353 (PubMed )
Supplement: 41417_2025_954_MOESM2_ESM.xlsx › ST_27.

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

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

Yang W et al.

Cancer Genetics, 2025

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

Integrated Genomic and Transcriptomic Profiling of Isolated Trisomies in AML Reveals Cell Cycle Dysregulation and Therapeutic Vulnerabilities.

Maués JHDS et al.

Journal of Cellular and Molecular Medicine, 2025

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

Identification of specific T-cell response and T-cell receptor targeting shared neoantigen for acute myeloid leukemia.

Zhou W et al.

Blood Cancer Journal, 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

Long-term outcomes in FLT3-mutated acute myeloid leukemia after frontline hypomethylating agent, venetoclax and a FLT3 inhibitor.

Short NJ et al.

Haematologica, 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

The role of ASXL1, SRSF2, and EZH2 mutations in chromatin dysregulation of myelodysplastic neoplasia and acute myeloid leukemia.

Yu H et al.

Leukemia, 2025

Detection of minimal residual disease in circulating cell-free DNA in acute myeloid leukemia.

Sommer C et al.

Scientific Reports, 2025

40987801 (PubMed )
Supplement: 41598_2025_20589_MOESM1_ESM.pdf

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.

Salzbrunn JB et al.

British Journal of Haematology, 2025

40754673 (PubMed )
Supplement: BJH-207-1085-s002.xlsx › MCV_cohort

Myeloid sarcoma shows a high frequency of mutations activating the MAPK/ERK pathway and association with clonal hematopoiesis.

Nann D et al.

The Journal of Pathology. Clinical Research, 2025

40906433 (PubMed )
Supplement: CJP2-11-e70044-s001.pdf

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

Clinical impact of single-gene vs. panel sequencing in advanced HR + /HER2- breast cancer: insights and implications.

Klocker EV et al.

Npj Breast Cancer, 2025

40775238 (PubMed )
Supplement: 41523_2025_805_MOESM1_ESM.pdf
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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."