Varaico: Literature-Extracted Genetic Variants

Gene:TRPV3
Variant:p.G568V
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TRPV3

NM_145068.4:p.G568V

Associated Papers

Physiological functions and pharmacological targeting of transient receptor potential channels.

Chubanov V et al.

Pharmacological Reviews, 2025

Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report.

Zhang J et al.

Frontiers in Medicine, 2025

The cumulative effect of compound heterozygous variants in TRPV3 caused Olmsted syndrome.

Mo R et al.

Journal of Dermatological Science, 2024

Pathogenesis and management of TRPV3-related Olmsted syndrome.

Lu A et al.

Frontiers in Genetics, 2024

Ion Channel Genes in Painful Neuropathies.

Ślęczkowska M et al.

Biomedicines, 2023

Structural basis of TRPV3 inhibition by an antagonist.

Fan J et al.

Nature Chemical Biology, 2023

Olmsted syndrome causing point mutants of TRPV3 (G568C and G568D) show defects in intracellular Ca2+-mobilization and induce lysosomal defects.

Jain A et al.

Biochemical and Biophysical Research Communications, 2022

Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes.

Song Z et al.

The Journal of Investigative Dermatology, 2021

Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome.

Zhong W et al.

The Journal of Investigative Dermatology, 2021

Pharmacological Inhibition of the Temperature-Sensitive and Ca2+-Permeable Transient Receptor Potential Vanilloid TRPV3 Channel by Natural Forsythoside B Attenuates Pruritus and Cytotoxicity of Keratinocytes.

Zhang H et al.

The Journal of Pharmacology and Experimental Therapeutics, 2019

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene.

Choi JY et al.

Yonsei Medical Journal, 2018

Identification of a heterozygous p.Gly568Val missense mutation in the TRPV3 gene in a Japanese patient with Olmsted syndrome: In silico analysis of TRPV3.

Nagai H et al.

The Journal of Dermatology, 2017

Expanding the Phenotypic Spectrum of Olmsted Syndrome.

Wilson NJ et al.

The Journal of Investigative Dermatology, 2015

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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."