Varaico: Literature-Extracted Genetic Variants

Gene:NARS1
Variant:p.S461F
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NARS1

NM_004539.4:p.S461F

Associated Papers

Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties.

Peeples SM et al.

Hgg Advances, 2026

Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells.

Vallee I et al.

The Journal of Biological Chemistry, 2025

Yeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease.

Mahmood M et al.

Iubmb Life, 2025

A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.

Theuriet J et al.

Journal of the Peripheral Nervous System : Jpns, 2024

Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.

Beijer D et al.

Brain Communications, 2024

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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."