Varaico: Literature-Extracted Genetic Variants

Gene:EIF2S3
Variant:p.V151L
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EIF2S3

NM_001415.4:p.V151L

Associated Papers

MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.

Dang Do AN et al.

Molecular Genetics and Metabolism, 2025

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

English AM et al.

Wiley Interdisciplinary Reviews. Rna, 2022

Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB.

Young-Baird SK et al.

Molecular Cell, 2020

MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2.

Young-Baird SK et al.

Nucleic Acids Research, 2019

Neuronal Regulation of eIF2α Function in Health and Neurological Disorders.

Moon SL et al.

Trends in Molecular Medicine, 2018

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Skopkova M et al.

Human Mutation, 2017

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

Borck G et al.

Molecular Cell, 2012

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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."