Varaico: Literature-Extracted Genetic Variants

Gene:PRKCG
Variant:p.M697I
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PRKCG

NM_002739.5:p.M697I

Associated Papers

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

Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.

Asai H et al.

Human Molecular Genetics, 2009

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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."