Varaico: Literature-Extracted Genetic Variants

Gene:AARS1
Variant:p.E688G
Back to variants list

AARS1

NM_001605.3:p.E688G

Associated Papers

The role of Alanyl-tRNA synthetase 1 lactylation in tumors and other diseases.

Zhou XY et al.

Discover Oncology, 2026

An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia.

Wu J et al.

Translational Neurodegeneration, 2023

Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models.

Kalotay E et al.

Frontiers in Neuroscience, 2023

Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.

Setlere S et al.

Neurology. Genetics, 2022

Expanded phenotype of AARS1-related white matter disease.

Helman G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

The uniqueness of AlaRS and its human disease connections.

Zhang H et al.

Rna Biology, 2021

Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?

Zhang H et al.

Journal of Neurochemistry, 2021

CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.

Sun L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.

Vinogradova ES et al.

Biochemistry. Biokhimiia, 2021

Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.

Wei N et al.

The Journal of Biological Chemistry, 2019

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

Nakayama T et al.

Human Mutation, 2017

Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.

Storkebaum E

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2016

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.

Bansagi B et al.

Journal of Neurology, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."