Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.S478P
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PDGFRA

NM_006206.6:p.S478P

Associated Papers

Analytical and clinical validation of CancerMaster, an automated targeted NGS panel, for tumor-only precision oncology.

Che J et al.

Scientific Reports, 2026

Structural pharmacogenomics of drug-associated SNPs in oral squamous cell carcinoma.

Sunil P et al.

Frontiers in Genetics, 2026

Cellular heterogeneity and therapeutic response profiling of human IDH + glioma stem cell cultures.

Chambwe N et al.

Scientific Reports, 2025

41423517 (PubMed )
Supplement: 41598_2025_33082_MOESM2_ESM.xlsx › GSCvariants

Cellular heterogeneity and therapeutic response profiling of human IDH+ glioma stem cell cultures.

Chambwe N et al.

Biorxiv : the Preprint Server for Biology, 2025

40766425 (PubMed )
Supplement: media-2.xlsx › GSCvariants

Effects of first‑line therapies in patients with locally advanced gastrointestinal stromal tumors with KIT and PDGFRα gene mutations: A single‑center study.

Su WC et al.

Oncology Letters, 2025

40276085 (PubMed )
Supplement: Supplementary_Data.pdf

Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review.

Xing Y et al.

Frontiers in Genetics, 2025

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: Table2.xls › Sheet1

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel

Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.

Orzan F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36648487 (PubMed )
Supplement: ccr-22-2903_supplementary_data_2_suppds2.xlsx › Variants_identidied_in_Cohort1

Establishment and characteristics of GWH04, a new primary human glioblastoma cell line.

Cheng F et al.

International Journal of Oncology, 2022

Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Metzenmacher M et al.

Translational Oncology, 2022

34800919 (PubMed )
Supplement: mmc3.xlsx › Tabelle1

Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.

Qian H et al.

Frontiers in Genetics, 2022

35547262 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2

Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Yang PS et al.

Frontiers in Oncology, 2022

35936696 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_4.xlsx › ___2

Mapping the serum proteome to neurological diseases using whole genome sequencing.

Png G et al.

Nature Communications, 2021

34857772 (PubMed )
Supplement: 41467_2021_27387_MOESM6_ESM.xlsx › Sheet1

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

A novel virtual barcode strategy for accurate panel-wide variant calling in circulating tumor DNA.

Wu L et al.

Bmc Bioinformatics, 2020

32245364 (PubMed )
Supplement: 12859_2020_3412_MOESM14_ESM.xlsx › ___2

The new-generation selective ROS1/NTRK inhibitor DS-6051b overcomes crizotinib resistant ROS1-G2032R mutation in preclinical models.

Katayama R et al.

Nature Communications, 2019

31399568 (PubMed )
Supplement: 41467_2019_11496_MOESM4_ESM.xlsx › JFCR-168_mutations

Whole-exome sequencing reveals novel genetic variants associated with diverse phenotypes of melanoma cells.

Hartman ML et al.

Molecular Carcinogenesis, 2019

Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors.

Liu F et al.

Therapeutic Advances in Medical Oncology, 2019

31205508 (PubMed )
Supplement: Supplemental_Table_3.xlsx › Sheet1

Challenges of Providing Concordant Interpretation of Somatic Variants in Non-Small Cell Lung Cancer: A Multicenter Study.

Gao P et al.

Journal of Cancer, 2019

31205538 (PubMed )
Supplement: jcav10p1814s1.xls › Table_S10

Molecularly annotation of mouse avatar models derived from patients with colorectal cancer liver metastasis.

Wang J et al.

Theranostics, 2019

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s7.xlsx › TP_Polymorphisms

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

Ip CKM et al.

Nature Communications, 2018

Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform.

Lüsebrink J et al.

Data in Brief, 2018

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.

Jouenne F et al.

Journal of Medical Genetics, 2017

Functional PTGS2 polymorphism-based models as novel predictive markers in metastatic renal cell carcinoma patients receiving first-line sunitinib.

Cebrián A et al.

Scientific Reports, 2017

Low Input Whole-Exome Sequencing to Determine the Representation of the Tumor Exome in Circulating DNA of Non-Small Cell Lung Cancer Patients.

Dietz S et al.

Plos One, 2016

Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

Rawal RM et al.

3 Biotech, 2015

28324520 (PubMed )
Supplement: 13205_2014_267_MOESM1_ESM.xlsx › WH

Detection of Rare Variant of SS18-SSX1 Fusion Gene and Mutations of Important Cancer-Related Genes in Synovial Sarcoma of the Lip: Gene Analyses of a Case and Literature Review.

Mikami T et al.

Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons, 2015

Correlation of Merkel cell polyomavirus positivity with PDGFRα mutations and survivin expression in Merkel cell carcinoma.

Batinica M et al.

Journal of Dermatological Science, 2015

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf

Molecular diagnostics of a single drug-resistant multiple myeloma case using targeted next-generation sequencing.

Ikeda H et al.

Oncotargets and Therapy, 2015

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S3

Specific analysis of KIT and PDGFR-alpha expression and mutational status in Merkel cell carcinoma.

Swick BL et al.

Journal of Cutaneous Pathology, 2013

Single-nucleotide polymorphisms associated with outcome in metastatic renal cell carcinoma treated with sunitinib.

Beuselinck B et al.

British Journal of Cancer, 2013

Platelet-derived growth factor may be a potential diagnostic and prognostic marker for cholangiocarcinoma.

Boonjaraspinyo S et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2012

Association of Merkel cell polyomavirus infection with tumor p53, KIT, stem cell factor, PDGFR-alpha and survival in Merkel cell carcinoma.

Waltari M et al.

International Journal of Cancer, 2011

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

Elling C et al.

Blood, 2011

[Inflammatory fibroid polyps are true neoplasms with PDGFRA mutations].

Schildhaus HU et al.

Der Pathologe, 2009

Ligand-dependent platelet-derived growth factor receptor (PDGFR)-alpha activation sensitizes rare lung cancer and sarcoma cells to PDGFR kinase inhibitors.

McDermott U et al.

Cancer Research, 2009

Inflammatory fibroid polyps harbour mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene.

Schildhaus HU et al.

The Journal of Pathology, 2008

Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect.

Pasini B et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.

Maertens O et al.

Human Molecular Genetics, 2006

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.

Sutajová M et al.

Genomics, 2004

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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."