Varaico: Literature-Extracted Genetic Variants

Gene:FTSJ1
Variant:p.A26P
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FTSJ1

NM_012280.4:p.A26P

Associated Papers

Structural insights into tRNA recognition of the human FTSJ1-THADA complex.

Ishiguro K et al.

Communications Biology, 2025

Effect of mRNA/tRNA mutations on translation speed: Implications for human diseases.

Davyt M et al.

The Journal of Biological Chemistry, 2023

The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.

Brazane M et al.

Life Science Alliance, 2023

Modifications of the human tRNA anticodon loop and their associations with genetic diseases.

Zhou JB et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Intellectual disability-associated gene ftsj1 is responsible for 2'-O-methylation of specific tRNAs.

Li J et al.

Embo Reports, 2020

Structure of tRNA methyltransferase complex of Trm7 and Trm734 reveals a novel binding interface for tRNA recognition.

Hirata A et al.

Nucleic Acids Research, 2019

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.

Guy MP et al.

Human Mutation, 2015

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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."