Varaico: Literature-Extracted Genetic Variants

Gene:IDH1
Variant:p.R132P
Back to variants list

IDH1

NM_005896.4:p.R132P

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

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

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 of Indeterminate Potential Is Associated With Incident Abdominal Aortic Aneurysm.

Tan Y et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

40336477 (PubMed )
Supplement: atvb-2024-322630-s01.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

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

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

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

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

IDH1 mutation activates mTOR signaling pathway, promotes cell proliferation and invasion in glioma cells.

Avsar T et al.

Molecular Biology Reports, 2022

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

Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.

Lv H et al.

World Journal of Surgical Oncology, 2022

Sequence Neighborhoods Enable Reliable Prediction of Pathogenic Mutations in Cancer Genomes.

Banerjee S et al.

Cancers, 2021

34068918 (PubMed )
Supplement: cancers-13-02366-s001.zip › Supplementary_Tables_1202501.xlsx › Table_S7

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Bick AG et al.

Nature, 2020

33057201 (PubMed )
Supplement: NIHMS1609346-supplement-1609346_SuppTables.xlsx › S2

Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Lin PC et al.

Scientific Reports, 2019

30850667 (PubMed )
Supplement: 41598_2019_40571_MOESM4_ESM.xlsx › Supp_Table_3

Isocitrate Dehydrogenase 1 Expression in Canine Gliomas.

Fraser AR et al.

Journal of Comparative Pathology, 2018

Immunohistochemical Detection and Molecular Characterization of IDH-mutant Sinonasal Undifferentiated Carcinomas.

Mito JK et al.

The American Journal of Surgical Pathology, 2018

Clinical prognostic value of the isocitrate dehydrogenase 1 single-nucleotide polymorphism rs11554137 in glioblastoma.

Mistry AM et al.

Journal of Neuro-oncology, 2018

Isocitrate dehydrogenase 1 mutation subtypes at site 132 and their translational potential in glioma.

Lu VM et al.

Cns Oncology, 2018

The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences.

Divisato G et al.

Oncotarget, 2017

Comparative study of IDH1 mutations in gliomas by high resolution melting analysis, immunohistochemistry and direct DNA sequencing.

Li J et al.

Molecular Medicine Reports, 2015

Development of a robust and sensitive pyrosequencing assay for the detection of IDH1/2 mutations in gliomas.

Arita H et al.

Brain Tumor Pathology, 2015

Isocitrate dehydrogenase 2 mutation is a frequent event in osteosarcoma detected by a multi-specific monoclonal antibody MsMab-1.

Liu X et al.

Cancer Medicine, 2013

Comparative study of IDH1 mutations in gliomas by immunohistochemistry and DNA sequencing.

Agarwal S et al.

Neuro-oncology, 2013

What do we know about IDH1/2 mutations so far, and how do we use it?

Horbinski C

Acta Neuropathologica, 2013

IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectives.

Yang H et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

IDH mutations in human glioma.

Kim W et al.

Neurosurgery Clinics of North America, 2012

Role of isocitrate dehydrogenase in glioma.

Alexander BM et al.

Expert Review of Neurotherapeutics, 2011

IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders.

Zou Y et al.

Biochemical and Biophysical Research Communications, 2010

A single-tube, sensitive multiplex method for screening of isocitrate dehydrogenase 1 (IDH1) mutations.

Chou WC et al.

Blood, 2010

Segregation of non-p.R132H mutations in IDH1 in distinct molecular subtypes of glioma.

Gravendeel LA et al.

Human Mutation, 2010

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."