Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.P581S
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PDGFRA

NM_006206.6:p.P581S

Associated Papers

Concurrent Coprimary KIT Exon 17 and BRAF Mutations in a Small Intestinal GI Stromal Tumor-A Case Report.

Ishfaq H et al.

Journal of Gastrointestinal Cancer, 2025

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.

Rostami MR et al.

Molecular Therapy. Methods & Clinical Development, 2023

38089635 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_II

A literature review and database of how the primary KIT/PDGFRA variant of a gastrointestinal stromal tumour predicts for sensitivity to imatinib.

Wong NACS et al.

Cancer Genetics, 2022

Progression of the tumor in a patient with a gastrointestinal stromal tumor with the PDGFRA exon 12 mutation who received multiple surgeries and multiple lines of tyrosine kinase inhibitor therapies: a case report.

An Z et al.

Journal of Gastrointestinal Oncology, 2022

Type and Gene Location of KIT Mutations Predict Progression-Free Survival to First-Line Imatinib in Gastrointestinal Stromal Tumors: A Look into the Exon.

Incorvaia L et al.

Cancers, 2021

KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors.

Miranda C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

Epidemiology and molecular biology of gastrointestinal stromal tumors (GISTs): a population-based study in the South of Switzerland, 1999-2005.

Mazzola P et al.

Histology and Histopathology, 2008

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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."