Varaico: Literature-Extracted Genetic Variants

Gene:IDH1
Variant:p.A134D
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IDH1

NM_005896.4:p.A134D

Associated Papers

NGS detection of gene rearrangements and METexon14 mutations in liquid biopsy of advanced NSCLC patients: A study of two Italian centers.

Verzè M et al.

The Journal of Liquid Biopsy, 2024

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

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Conventional chondrosarcoma with focal clear cell change: a clinicopathological and molecular analysis.

Lam SW et al.

Histopathology, 2019

Molecular Alterations in Thyroid Cancer: From Bench to Clinical Practice.

Tirrò E et al.

Genes, 2019

The emerging role and targetability of the TCA cycle in cancer metabolism.

Anderson NM et al.

Protein & Cell, 2018

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

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

Liu X et al.

Histology and Histopathology, 2015

Induction of sarcomas by mutant IDH2.

Lu C et al.

Genes & Development, 2013

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

Zhang C et al.

Neuro-oncology, 2013

Mutant IDH1 enhances the production of 2-hydroxyglutarate due to its kinetic mechanism.

Rendina AR et al.

Biochemistry, 2013

23731180 (PubMed )
Supplement: bi400514k_si_001.pdf

The potential for isocitrate dehydrogenase mutations to produce 2-hydroxyglutarate depends on allele specificity and subcellular compartmentalization.

Ward PS et al.

The Journal of Biological Chemistry, 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

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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."