Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRB
Variant:p.N666Y
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PDGFRB

NM_002609.4:p.N666Y

Associated Papers

Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.

Cristea I et al.

European Journal of Human Genetics : Ejhg, 2025

Dermatomyofibromas harbor PDGFRB mutations - another tyrosine kinase-driven neoplasm.

Flucke U et al.

Virchows Archiv : an International Journal of Pathology, 2025

Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling.

Gladkauskas T et al.

Human Mutation, 2025

Corneal Vascularization Associated With a Novel PDGFRB Variant.

Gladkauskas T et al.

Investigative Ophthalmology & Visual Science, 2023

Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome.

Iznardo H et al.

American Journal of Medical Genetics. Part A, 2022

Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.

Bredrup C et al.

Human Molecular Genetics, 2021

Clinical and molecular characteristics of Chinese non-small cell lung cancer patients with ERBB2 transmembrane domain mutations.

Fan Y et al.

Molecular Oncology, 2020

32478891 (PubMed )
Supplement: MOL2-14-1731-s002.xlsx › Sheet1
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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."