Varaico: Literature-Extracted Genetic Variants

Gene:PRKCG
Variant:p.D115Y
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PRKCG

NM_002739.5:p.D115Y

Associated Papers

Novel C1A Domain Variant in Protein Kinase Cγ in Spinocerebellar Ataxia Type 14 Decreases Autoinhibition.

Raj Ghosh G et al.

Cerebellum (london, England), 2025

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.

Ahn JH et al.

Npj Genomic Medicine, 2024

39609445 (PubMed )
Supplement: 41525_2024_449_MOESM3_ESM.xlsx › Table_S2

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

Abid F et al.

Cancer Cell International, 2023

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

Pilo CA et al.

Science Signaling, 2022

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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."