Varaico: Literature-Extracted Genetic Variants

Gene:IDH1
Variant:p.V71I
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IDH1

NM_005896.4:p.V71I

Associated Papers

Characteristics and prognostic impact of IDH mutations in AML: a COG, SWOG, and ECOG analysis.

Zarnegar-Lumley S et al.

Blood Advances, 2023

Gene of the month: IDH1.

Bruce-Brand C et al.

Journal of Clinical Pathology, 2020

Integration Analysis of JAK2 or RUNX1 Mutation With Bone Marrow Blast Can Improve Risk Stratification in the Patients With Lower Risk Myelodysplastic Syndrome.

Fang Y et al.

Frontiers in Oncology, 2020

33520721 (PubMed )
Supplement: Table_2.xlsx › Sheet1

Distinctive mechanisms underlie the loss of SMARCB1 protein expression in renal medullary carcinoma: morphologic and molecular analysis of 20 cases.

Jia L et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

30980040 (PubMed )
Supplement: NIHMS1523944-supplement-1.xlsx › Sheet1

Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Vikova V et al.

Theranostics, 2019

30809292 (PubMed )
Supplement: thnov09p0540s1.pdf

Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Dehghani M et al.

Frontiers in Molecular Biosciences, 2019

31681791 (PubMed )
Supplement: Data_Sheet_14.XLSX › SNV_and_indels

Prevalence of the single-nucleotide polymorphism rs11554137 (IDH1105GGT) in brain tumors of a cohort of Italian patients.

Acquaviva G et al.

Scientific Reports, 2018

Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Madubata CJ et al.

Npj Genomic Medicine, 2017

Role of isocitrate dehydrogenase 1/2 (IDH 1/2) gene mutations in human tumors.

Liu X et al.

Histology and Histopathology, 2015

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

Zhang C et al.

Neuro-oncology, 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

Identification of additional IDH mutations associated with oncometabolite R(-)-2-hydroxyglutarate production.

Ward PS et al.

Oncogene, 2012

Cancer-associated isocitrate dehydrogenase mutations inactivate NADPH-dependent reductive carboxylation.

Leonardi R et al.

The Journal of Biological Chemistry, 2012

IDH1 and IDH2 mutations in pediatric acute leukemia.

Andersson AK et al.

Leukemia, 2011

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors.

Rakheja D et al.

Pediatric Blood & Cancer, 2011

Cancer-associated IDH mutations: biomarker and therapeutic opportunities.

Yen KE et al.

Oncogene, 2010

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

IDH mutations in glioma and acute myeloid leukemia.

Dang L et al.

Trends in Molecular Medicine, 2010

IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study.

Marcucci G et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2010

Molecular alterations of the IDH1 gene in AML: a Children's Oncology Group and Southwest Oncology Group study.

Ho PA et al.

Leukemia, 2010

Identification and functional characterization of isocitrate dehydrogenase 1 (IDH1) mutations in thyroid cancer.

Murugan AK et al.

Biochemical and Biophysical Research Communications, 2010

IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors.

Bleeker FE et al.

Human Mutation, 2009

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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."