Varaico: Literature-Extracted Genetic Variants

Gene:PRKCG
Variant:p.I173S
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PRKCG

NM_002739.5:p.I173S

Associated Papers

Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition.

Pilo CA et al.

Science Signaling, 2022

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

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

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

Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14.

Shimobayashi E et al.

Molecular Brain, 2017

A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14.

Ueda T et al.

Journal of Neurology, 2013

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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."