Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.D566V
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EIF2AK3

NM_004836.7:p.D566V

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Ethnic variation and structure-function analysis of tauopathy-associated PERK alleles.

Park G et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Neurodegeneration risk factor, EIF2AK3 (PERK), influences tau protein aggregation.

Park G et al.

The Journal of Biological Chemistry, 2023

36563857 (PubMed )
Supplement: mmc2.xlsx › gnomAD_v2.1.1_ENSG00000172071_2

Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.

Shrestha R et al.

Cancer Research, 2021

33441310 (PubMed )
Supplement: can-20-2222_supplemental_st1-st14_suppst1-st14.xlsx › S3

EIF2AK3 variants in Dutch patients with Alzheimer's disease.

Wong TH et al.

Neurobiology of Aging, 2019

Tauopathy-associated PERK alleles are functional hypomorphs that increase neuronal vulnerability to ER stress.

Yuan SH et al.

Human Molecular Genetics, 2018

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.

Ferrari R et al.

Neurobiology of Aging, 2014

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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."