Varaico: Literature-Extracted Genetic Variants

Gene:IDH1
Variant:p.R132C
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IDH1

NM_005896.4:p.R132C

Associated Papers

Synchronous diagnosis of multicentric glioma with distinct isocitrate dehydrogenase molecular profiles: a case report.

Mohan AA et al.

Cns Oncology, 2026

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

Gene duplication is associated with gene diversification and potential neofunctionalization in lung cancer evolution.

Ashford P et al.

Genome Research, 2026

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

Jung D et al.

Biosensors & Bioelectronics, 2026

Long-term administration of the mutant IDH inhibitor DS-1001b suppresses the growth of IDH1-mutant glioma in vitro and in mouse xenograft models and alters epigenetic profiles.

Fujimoto K et al.

Acta Neuropathologica, 2026

Isocitrate Dehydrogenase Inhibitors in Acute Myeloid Leukemia.

Dai Q et al.

Chemistry & Biodiversity, 2026

Olutasidenib in recurrent/relapsed locally advanced or metastatic IDH1-mutated chondrosarcoma: phase 1b/2 trial.

Jones RL et al.

Nature Communications, 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

Clinicopathologic and molecular characterization of uterine and ovarian mixed yolk sac tumor and carcinoma/carcinosarcoma: implications for somatic derivation and therapeutics.

Zhao J et al.

Virchows Archiv : an International Journal of Pathology, 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

Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.

Brand F et al.

Acta Neuropathologica, 2026

41546701 (PubMed )
Supplement: 401_2025_2972_MOESM1_ESM.pdf

Autopalmitoylation of IDH1-R132H regulates its neomorphic activity in cancer cells.

Hu L et al.

Nature Chemical Biology, 2026

NUP98 rearrangements in adult AML patients: evaluation of clinical implications and identification of novel fusion partners.

Chonabayashi K et al.

Leukemia, 2026

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

Comprehensive Genomic Profiling Across Diverse Solid Tumors: A Real-World Experience From India With FoundationOne®CDx Testing.

Julka PK et al.

Cureus, 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

Genomic characterization of colorectal tumors: insights into significantly mutated genes, pathways, and survival outcomes.

Harrison TA et al.

Bmc Cancer, 2025

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

Ultrasensitive Detection of Rare Mutations via Amplifying-Cleaving-Enriching in Acute Myeloid Leukemia.

Zhuang X et al.

Biomedicines, 2025

Nucleotide Substitution Biases in Related Cancer Driver Genes.

Khadre A et al.

International Journal of Molecular Sciences, 2025

Outcomes of Patients With IDH1-Mutated Myeloid Neoplasms Treated With Olutasidenib.

Chien KS et al.

Clinical Lymphoma, Myeloma & Leukemia, 2025

Identification and structure-activity relationship optimization of dibromoacetophenones as novel mIDH1 inhibitors.

Li C et al.

European Journal of Medicinal Chemistry, 2025

Programmable Argonaute-mediated single-nucleotide variant sequencing of cell-free DNA for multi-cancer early detection.

Guo C et al.

Nature Communications, 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

Advances in the management of patients with IDH-mutant glioma.

Rossi J et al.

The Oncologist, 2025

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

IDH1 mutation in acute lymphoblastic leukemia-A rare but significant finding.

Buzzatti E et al.

Current Research in Translational Medicine, 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

PARP inhibitor resistance in IDH1-mutant cancers due to loss of end protection factors, 53BP1 and REV7.

Colón-Ríos DA et al.

Nar Cancer, 2025

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

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

Loss of IDH1 and IDH2 mutations during the evolution of metastatic chondrosarcoma.

Cross W et al.

Genome Biology, 2025

A Comprehensive Analysis of Novel Variations Associated with Bile Duct Cancer: Insights into Expression, Methylation, and 3D Protein Structure.

Bülbül A et al.

International Journal of Molecular Sciences, 2025

41373405 (PubMed )
Supplement: ijms-26-11244-s001.zip › S1.xlsx › Sheet1

Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies.

Kuentz P et al.

The British Journal of Dermatology, 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

EGFR transcript variants: Potential diagnostic biomarker for glioblastoma, IDH-wildtype?

Cook DJ et al.

Journal of Neuropathology and Experimental Neurology, 2025

Activity of Brigatinib in Patients With Crizotinib-Resistant ALK-positive Non-Small-Cell Lung Cancer According to ALK Fusion and Mutation Status.

Bazhenova L et al.

Clinical Lung Cancer, 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.
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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."