Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.E348Q
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DDX3X

NM_001356.5:p.E348Q

Associated Papers

Regulatory role of the N-terminal intrinsically disordered region of the DEAD-box RNA helicase DDX3X in selective RNA recognition.

Toyama Y et al.

Nature Communications, 2025

Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X.

Mossa A et al.

Nature Communications, 2025

NMR characterization of RNA binding property of the DEAD-box RNA helicase DDX3X and its implications for helicase activity.

Toyama Y et al.

Nature Communications, 2024

Targeting DDX3X Triggers Antitumor Immunity via a dsRNA-Mediated Tumor-Intrinsic Type I Interferon Response.

Choi H et al.

Cancer Research, 2021

CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation.

Cheng W et al.

Neuron, 2019

Cancer-associated DDX3X mutations drive stress granule assembly and impair global translation.

Valentin-Vega YA et al.

Scientific Reports, 2016

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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."