Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R351W
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DDX3X

NM_001356.5:p.R351W

Associated Papers

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

DDX3X mutation and Epstein-Barr virus cooperate to induce R-loop-dependent oncogenesis.

Cai HM et al.

Cell Reports, 2025

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.

Pomares AA et al.

Plos One, 2025

40067847 (PubMed )
Supplement: pone.0318689.s001.zip › supplementary_material › TABLE_S3._Mutations_in_DLBCL__86_cases_.xlsx › Hoja1

Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates.

Owens MC et al.

Nature Communications, 2024

Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.

Forbes EJ et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2024

The Role of the RNA Helicase DDX3X in Medulloblastoma Progression.

Swarup A et al.

Biomolecules, 2024

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.

Radford EJ et al.

Nature Communications, 2023

38057330 (PubMed )
Supplement: 41467_2023_43041_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_S26_cBioportal_DDX3X_vars_190_nonoverlapping_samples.xlsx › Supplementary_Data_S21_cBioport

Mutant forms of DDX3X with diminished catalysis form hollow condensates that exhibit sex-specific regulation.

Owens MC et al.

Biorxiv : the Preprint Server for Biology, 2023

The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.

Gadek M et al.

Trends in Molecular Medicine, 2023

Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Suthapot P et al.

Cancers, 2023

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

Engineering Genetic Predisposition in Human Neuroepithelial Stem Cells Recapitulates Medulloblastoma Tumorigenesis.

Huang M et al.

Cell Stem Cell, 2019

PI3K/AKT/mTOR Pathway Alterations Promote Malignant Progression and Xenograft Formation in Oligodendroglial Tumors.

Tateishi K et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

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

Valentin-Vega YA et al.

Scientific Reports, 2016

Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

Epling LB et al.

Journal of Molecular Biology, 2015

Medulloblastoma-associated mutations in the DEAD-box RNA helicase DDX3X/DED1 cause specific defects in translation.

Brown NP et al.

The Journal of Biological Chemistry, 0

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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."