Varaico: Literature-Extracted Genetic Variants

Gene:PRKCH
Variant:p.V374I
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PRKCH

NM_006255.5:p.V374I

Associated Papers

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer's disease.

Gauron MC et al.

Science Signaling, 2025

Protein kinase C eta enhances Golgi-localized signaling and is associated with Alzheimer's disease using a recessive mode of inheritance.

Gauron MC et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Case Report: Decoding genetic risks of vascular parkinsonism: a case series.

Shalash A et al.

Frontiers in Genetics, 2025

40786864 (PubMed )
Supplement: Table1.xlsx › S.table1

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach.

Akhtar M et al.

Biology, 2021

A novel patient-derived organoids-based xenografts model for preclinical drug response testing in patients with colorectal liver metastases.

Jian M et al.

Journal of Translational Medicine, 2020

32532289 (PubMed )
Supplement: 12967_2020_2407_MOESM2_ESM.xlsx › Table_S1A_356_SNV

Genetic Polymorphisms and Susceptibility to Sudden Sensorineural Hearing Loss: A Systematic Review.

Cao Z et al.

Audiology & Neuro-otology, 2019

Genetic association between 1425G/A SNP in PRKCH and hypertrophic cardiomyopathy in a Chinese population.

Ji F et al.

Oncotarget, 2017

Influence of PRKCH gene polymorphism on antihypertensive response to amlodipine and telmisartan.

Zhang ZL et al.

Clinical and Experimental Hypertension (new York, N.y. : 1993), 2017

Protein kinase Cη polymorphism and the susceptibilities to intracerebral hemorrhage in the Taiwan population.

Chen YC et al.

Neuroscience Letters, 2012

Contribution of 1425G/A polymorphism in protein kinase C-Eta (PRKCH) gene and brain white matter lesions to the risk of sudden sensorineural hearing loss in a Japanese nested case-control study.

Uchida Y et al.

Journal of Neurogenetics, 2011

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Zhang G et al.

Human Mutation, 2010

21064102 (PubMed )
Supplement: supplement_1.pdf

Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study.

Yamada Y et al.

Atherosclerosis, 2009

The 1425G/A SNP in PRKCH is associated with ischemic stroke and cerebral hemorrhage in a Chinese population.

Wu L et al.

Stroke, 2009

[Genetic risk factors of ischemic stroke identified by a genome-wide association study].

Kubo M

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2008

[Molecular epidemiology of cerebrovascular diseases; the Hisayama study and the Fukuoka Stroke Registry (FSR)].

Kitazono T et al.

Rinsho Shinkeigaku = Clinical Neurology, 2008

A nonsynonymous SNP in PRKCH (protein kinase C eta) increases the risk of cerebral infarction.

Kubo M et al.

Nature Genetics, 2007

Genetic association between the PRKCH gene encoding protein kinase Ceta isozyme and rheumatoid arthritis in the Japanese population.

Takata Y et al.

Arthritis and Rheumatism, 2007

Association of the genetic variants of APOA5 and PRKCH with hypertension in community-dwelling Japanese individuals.

Yamada Y et al.

Molecular Medicine Reports, 0

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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."