Varaico: Literature-Extracted Genetic Variants

Gene:PRKCH
Variant:p.A19V
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PRKCH

NM_006255.5:p.A19V

Associated Papers

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients.

Dev P et al.

Plos One, 2026

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

Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Lehmkuhl P et al.

Cellular & Molecular Immunology, 2021

34059789 (PubMed )
Supplement: 41423_2021_701_MOESM3_ESM.xlsx › 270

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094
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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."