Varaico: Literature-Extracted Genetic Variants

Gene:IDH1
Variant:p.R100Q
Back to variants list

IDH1

NM_005896.4:p.R100Q

Associated Papers

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

ctDNA detectability and representativeness in seven body liquids from patients with metastatic breast cancer.

Richard F et al.

Nature Communications, 2025

41330890 (PubMed )
Supplement: 41467_2025_65838_MOESM26_ESM.xlsx › SD22b_mutationalData

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

Ward JC et al.

The Journal of 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

A pilot study of nintedanib in molecularly selected patients with advanced non-small cell lung cancer.

Auberle C et al.

Journal of Thoracic Disease, 2024

Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.

Lee K et al.

Scientific Reports, 2023

37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_variants_

Rational Computational Approaches in Drug Discovery: Potential Inhibitors for Allosteric Regulation of Mutant Isocitrate Dehydrogenase-1 Enzyme in Cancers.

Thamim M et al.

Molecules (basel, Switzerland), 2023

Molecular and clinical characteristics of IDH mutations in Chinese NSCLC patients and potential treatment strategies.

Chen S et al.

Cancer Medicine, 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

Wnt/β-Catenin-Pathway Alterations and Homologous Recombination Deficiency in Cholangiocarcinoma Cell Lines and Clinical Samples: Towards Specific Vulnerabilities.

Scheiter A et al.

Journal of Personalized Medicine, 2022

36013219 (PubMed )
Supplement: jpm-12-01270-s001.zip › jpm-1799777-supplementary.pdf

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM2_ESM.xlsx › Sheet1

Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain.

Ganz J et al.

Cancer Discovery, 2022

Detection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of "False-Positive" Cases.

Natsumeda M et al.

Diagnostics (basel, Switzerland), 2021

Usefulness of Circulating Tumor DNA in Identifying Somatic Mutations and Tracking Tumor Evolution in Patients With Non-small Cell Lung Cancer.

Roosan MR et al.

Chest, 2021

33878340 (PubMed )
Supplement: mmc1.pdf

Clinical and mutational profiles of adult medulloblastoma groups.

Wong GC et al.

Acta Neuropathologica Communications, 2020

33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation

An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid.

Blackburn PR et al.

Hgg Advances, 2020

Isocitrate dehydrogenase variants in cancer - Cellular consequences and therapeutic opportunities.

Liu S et al.

Current Opinion in Chemical Biology, 2020

Molecular mechanisms of isocitrate dehydrogenase 1 (IDH1) mutations identified in tumors: The role of size and hydrophobicity at residue 132 on catalytic efficiency.

Avellaneda Matteo D et al.

The Journal of Biological Chemistry, 2017

Pan-mutant IDH1 inhibitor BAY 1436032 for effective treatment of IDH1 mutant astrocytoma in vivo.

Pusch S et al.

Acta Neuropathologica, 2017

Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Kovaleva V et al.

Molecular Cancer, 2016

27756406 (PubMed )
Supplement: 12943_2016_549_MOESM2_ESM.xlsx › Kovaleva_SuppTableS4_BMC_MolCan

Periosteal chondrosarcoma: a histopathological and molecular analysis of a rare chondrosarcoma subtype.

Cleven AH et al.

Histopathology, 2015

IDH1 and IDH2 mutations in different histologic subtypes and WHO grading gliomas in a sample from Northern Brazil.

Pessôa IA et al.

Genetics and Molecular Research : Gmr, 2015

The role of mutation of metabolism-related genes in genomic hypermethylation.

Waterfall JJ et al.

Biochemical and Biophysical Research Communications, 2014

A new sensitive PCR assay for one-step detection of 12 IDH1/2 mutations in glioma.

Catteau A et al.

Acta Neuropathologica Communications, 2014

D-2-Hydroxyglutarate producing neo-enzymatic activity inversely correlates with frequency of the type of isocitrate dehydrogenase 1 mutations found in glioma.

Pusch S et al.

Acta Neuropathologica Communications, 2014

Mixed T/myeloid phenotype acute leukemia with rare variants of IDH1 and CEBPA.

Ma Q et al.

Leukemia & Lymphoma, 2013

IDH1/2 mutations target a key hallmark of cancer by deregulating cellular metabolism in glioma.

Zhang C et al.

Neuro-oncology, 2013

Expanding the spectrum of IDH1 mutations in gliomas.

Gupta R et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2013

What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer.

Losman JA et al.

Genes & Development, 2013

The Frequency and clinical significance of IDH1 mutations in Chinese acute myeloid leukemia patients.

Guan L et al.

Plos One, 2013

Molecular pathogenesis of IDH mutations in gliomas.

Ichimura K

Brain Tumor Pathology, 2012

IDH mutations in human glioma.

Kim W et al.

Neurosurgery Clinics of North America, 2012

Isocitrate dehydrogenase mutations in diffuse gliomas: clinical and aetiological implications.

Gupta R et al.

Journal of Clinical Pathology, 2011

Glioma IDH1 mutation patterns off the beaten track.

Pusch S et al.

Neuropathology and Applied Neurobiology, 2011

O6-methylguanine-DNA methyltransferase promoter methylation and isocitrate dehydrogenase mutation as prognostic factors in a cohort of Saudi patients with glioblastoma.

Alassiri AH et al.

Annals of Saudi Medicine, 0

Rare Cases of IDH1 Mutations in Spinal Cord Astrocytomas.

Konovalov NA et al.

Acta Naturae, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."