Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.E198K
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EIF2B1

NM_001414.4:p.E198K

Associated Papers

Chronic integrated stress response causes dysregulated cholesterol synthesis in white matter disease.

Lin K et al.

Jci Insight, 2025

The role of eIF2 phosphorylation in cell and organismal physiology: new roles for well-known actors.

Wang X et al.

The Biochemical Journal, 2022

A (dis)integrated stress response: Genetic diseases of eIF2α regulators.

English AM et al.

Wiley Interdisciplinary Reviews. Rna, 2022

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.

Slynko I et al.

Molecular Genetics & Genomic Medicine, 2021

33432707 (PubMed )
Supplement: MGG3-9-e1593-s001.pdf

Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.

Wortham NC et al.

Bmc Medical Genetics, 2015

The spectrum of mutations for the diagnosis of vanishing white matter disease.

Scali O et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006

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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."