Varaico: Literature-Extracted Genetic Variants

Gene:YARS1
Variant:p.E196Q
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YARS1

NM_003680.4:p.E196Q

Associated Papers

A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.

Forrest ME et al.

Cold Spring Harbor Molecular Case Studies, 2022

36307205 (PubMed )
Supplement: supp_mcs.a006246_Supplemental_Figure_1.pdf

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

Zhang H et al.

Journal of Neurochemistry, 2021

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

Vinogradova ES et al.

Biochemistry. Biokhimiia, 2021

YARS as an oncogenic protein that promotes gastric cancer progression through activating PI3K-Akt signaling.

Zhang C et al.

Journal of Cancer Research and Clinical Oncology, 2020

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Williams KB et al.

Human Molecular Genetics, 2019

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.

Nowaczyk MJ et al.

American Journal of Medical Genetics. Part A, 2017

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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."