Varaico: Literature-Extracted Genetic Variants

Gene:TRMT1
Variant:p.Y445fs
Back to variants list

TRMT1

NM_001136035.4:p.Y445fs

Associated Papers

Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activation.

Jonkhout N et al.

Rna Biology, 2021

An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.

Zhang K et al.

Human Mutation, 2020

TRMT1-Catalyzed tRNA Modifications Are Required for Redox Homeostasis To Ensure Proper Cellular Proliferation and Oxidative Stress Survival.

Dewe JM et al.

Molecular and Cellular Biology, 2017

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."