Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRB
Variant:p.Y562C
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PDGFRB

NM_002609.4:p.Y562C

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Treatment of PDGFRB -Related Penttinen Syndrome With Imatinib in a Young Child.

McPheron M et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025

Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm.

Hao L et al.

Journal of Biomedical Science, 2024

Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma.

Pakyari M et al.

The American Journal of Surgical Pathology, 2024

Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms.

Shima Y et al.

Science Translational Medicine, 2023

High-Grade Sarcomas with Myogenic Differentiation Harboring Hotspot PDGFRB Mutations.

Dermawan JK et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

PDGFRB and NOTCH3 Mutations are Detectable in a Wider Range of Pericytic Tumors, Including Myopericytomas, Angioleiomyomas, Glomus Tumors, and Their Combined Tumors.

Iwamura R et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds.

Parada CA et al.

Journal of the American Heart Association, 2022

True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene.

Shalhub S et al.

Journal of Vascular Surgery Cases and Innovative Techniques, 2021

Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).

Chenbhanich J et al.

American Journal of Medical Genetics. Part A, 2021

Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome.

Takenouchi T et al.

American Journal of Medical Genetics. Part A, 2021

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Foster A et al.

Clinical Genetics, 2020

Odontogenic myxomas lack PDGFRB mutations reported in myofibromas.

de Siqueira EC et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2020

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.

Karasozen Y et al.

American Journal of Human Genetics, 2019

Myopericytomatosis: Clinicopathologic Analysis of 11 Cases With Molecular Identification of Recurrent PDGFRB Alterations in Myopericytomatosis and Myopericytoma.

Hung YP et al.

The American Journal of Surgical Pathology, 2017

Recurrent Somatic PDGFRB Mutations in Sporadic Infantile/Solitary Adult Myofibromas But Not in Angioleiomyomas and Myopericytomas.

Agaimy A et al.

The American Journal of Surgical Pathology, 2017

Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature.

Al Qawahmed R et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 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."