Varaico: Literature-Extracted Genetic Variants

Gene:PRKCG
Variant:p.C114Y
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PRKCG

NM_002739.5:p.C114Y

Associated Papers

Non-synonymous SNPs variants of PRKCG and its association with oncogenes predispose to hepatocellular carcinoma.

Abid F et al.

Cancer Cell International, 2023

Novel mutation in exon11 of PRKCG (SCA14): A case report.

Sun R et al.

Frontiers in Genetics, 2023

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

De Michele G et al.

Journal of Neurology, 2022

Epidemiological Evidence for Associations Between Genetic Variants and Osteosarcoma Susceptibility: A Meta-Analysis.

Yuan D et al.

Frontiers in Oncology, 2022

Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.

Schmitz-Hübsch T et al.

Annals of Clinical and Translational Neurology, 2021

A New Mouse Model Related to SCA14 Carrying a Pseudosubstrate Domain Mutation in PKCγ Shows Perturbed Purkinje Cell Maturation and Ataxic Motor Behavior.

Shimobayashi E et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021

NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.

Riso V et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation.

Wong MMK et al.

Acta Neuropathologica Communications, 2018

Pharmacological induction of heat shock proteins ameliorates toxicity of mutant PKCγ in spinocerebellar ataxia type 14.

Nakazono A et al.

The Journal of Biological Chemistry, 2018

Genetic variations in the PRKCG gene and osteosarcoma risk in a Chinese population: a case-control study.

Lu H et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2015

Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein.

Takahashi H et al.

Human Molecular Genetics, 2015

Elucidation of the molecular mechanism and exploration of novel therapeutics for spinocerebellar ataxia caused by mutant protein kinase Cγ.

Seki T et al.

Journal of Pharmacological Sciences, 2011

Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.

Adachi N et al.

The Journal of Biological Chemistry, 2008

Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress.

Seki T et al.

The European Journal of Neuroscience, 2007

Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.

Nolte D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2007

Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.

Dalski A et al.

Journal of Neurology, 2006

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

Klebe S et al.

Annals of Neurology, 2005

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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."