Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.V536E
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PDGFRA

NM_006206.6:p.V536E

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Calcifying pseudoneoplasm of the neuraxis progressing to G5/PDGFRA subgroup glioblastoma in a United States Army veteran with a history of head trauma and germline POT1 and EPHB2 mutations: illustrative case.

Georgescu MM et al.

Journal of Neurosurgery. Case Lessons, 2025

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_2_suppst2.xlsx › Sheet1

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_relapse_TISF

Immune landscape of oncohistone-mutant gliomas reveals diverse myeloid populations and tumor-promoting function.

Andrade AF et al.

Nature Communications, 2024

39237515 (PubMed )
Supplement: 41467_2024_52096_MOESM4_ESM.xlsx › A__Single_cell___nuclei_Samples

PDGFRA K385 mutants in myxoid glioneuronal tumors promote receptor dimerization and oncogenic signaling.

de Villenfagne L et al.

Scientific Reports, 2024

Molecular and clonal evolution in vivo reveal a common pathway of distant relapse gliomas.

Liu G et al.

Iscience, 2023

On a mechanistic impact of transmembrane tetramerization in the pathological activation of RTKs.

Polyansky AA et al.

Computational and Structural Biotechnology Journal, 2023

Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.

Sheng Z et al.

Frontiers in Oncology, 2023

Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel.

Higa N et al.

Neurologia Medico-chirurgica, 2022

36031351 (PubMed )
Supplement: 1349-8029-62-0391-s006.pdf

Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma.

DeSisto J et al.

Nature Communications, 2021

34545084 (PubMed )
Supplement: 41467_2021_25709_MOESM12_ESM.xlsx › ST12

Multi-Platform Classification of IDH-Wild-Type Glioblastoma Based on ERK/MAPK Pathway: Diagnostic, Prognostic and Therapeutic Implications.

Georgescu MM

Cancers, 2021

34572759 (PubMed )
Supplement: cancers-13-04532-s001.zip › cancers-1328061-supplementary.pdf

PDGF receptor mutations in human diseases.

Guérit E et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Application of Cluster Analysis of Time Evolution for Magnetic Resonance Imaging -Derived Oxygen Extraction Fraction Mapping: A Promising Strategy for the Genetic Profile Prediction and Grading of Glioma.

Shen N et al.

Frontiers in Neuroscience, 2021

34671241 (PubMed )
Supplement: Data_Sheet_1.ZIP › 736891_SupMaterial › Source_data › genomic_data › ____________.xlsx › snv

Genomic profiling of newly diagnosed glioblastoma patients and its potential for clinical utility - a prospective, translational study.

Nørøxe DS et al.

Molecular Oncology, 2020

32885540 (PubMed )
Supplement: MOL2-14-2727-s001.pdf

Mislocalisation of Activated Receptor Tyrosine Kinases - Challenges for Cancer Therapy.

Schmidt-Arras D et al.

Trends in Molecular Medicine, 2020

Atomistic mechanism of the constitutive activation of PDGFRA via its transmembrane domain.

Polyansky AA et al.

Biochimica Et Biophysica Acta. General Subjects, 2019

Neomorphic PDGFRA extracellular domain driver mutations are resistant to PDGFRA targeted therapies.

Ip CKM et al.

Nature Communications, 2018

Clinically Integrated Sequencing Alters Therapy in Children and Young Adults With High-Risk Glial Brain Tumors.

Koschmann C et al.

Jco Precision Oncology, 2018

Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Gudernova I et al.

Oncotarget, 2017

29312610 (PubMed )
Supplement: oncotarget-08-109319-s003.docx

Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Erson-Omay EZ et al.

Genome Medicine, 2017

28153049 (PubMed )
Supplement: 13073_2017_401_MOESM3_ESM.xlsx › AllMutations_Clonality

Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling.

Arts FA et al.

Journal of Cellular and Molecular Medicine, 2015

Point mutations in dimerization motifs of the transmembrane domain stabilize active or inactive state of the EphA2 receptor tyrosine kinase.

Sharonov GV et al.

The Journal of Biological Chemistry, 2014

PDGFRA alterations in cancer: characterization of a gain-of-function V536E transmembrane mutant as well as loss-of-function and passenger mutations.

Velghe AI et al.

Oncogene, 2014

CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Mao Y et al.

Plos One, 2013

24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S10

Novel imatinib-sensitive PDGFRA-activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease.

Elling C et al.

Blood, 2011

Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.

Nasrallah MP et al.

Academic Pathology, 0

31206012 (PubMed )
Supplement: Supplementary_Table_2__1_.xlsx › table_egfrviii_and_solid_panel_
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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."