Varaico: Literature-Extracted Genetic Variants

Gene:IDH1
Variant:p.R49C
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IDH1

NM_005896.4:p.R49C

Associated Papers

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

Sequence-structure functional implications and molecular simulation of high deleterious nonsynonymous substitutions in IDH1 revealed the mechanism of drug resistance in glioma.

Suleman M et al.

Frontiers in Pharmacology, 2022

Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study.

Li DY et al.

Frontiers in Oncology, 2021

34055593 (PubMed )
Supplement: Table_2.xlsx › CNVs_and_SNVs

Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

De Falco V et al.

Esmo Open, 2020

32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf

Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors.

Han M et al.

Frontiers in Oncology, 2019

Genomic Profile and BRCA-1 Promoter Methylation Status in BRCA Mutated Ovarian Cancer: New Insights in Predictive Biomarkers of Olaparib Response.

Franzese E et al.

Frontiers in Oncology, 2019

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

Liu X et al.

Histology and Histopathology, 2015

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

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

Ward PS et al.

Oncogene, 2012

Integrated molecular genetic profiling of pediatric high-grade gliomas reveals key differences with the adult disease.

Paugh BS et al.

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

TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.

Cantero D et al.

Neuro-oncology Advances, 0

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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."