Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R475C
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DDX3X

NM_001356.5:p.R475C

Associated Papers

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

Cai HM et al.

Cell Reports, 2025

An in-cell helicase reporter system for quantifying DDX3X and DDX3Y activities.

Poh ZS et al.

Bioengineering & Translational Medicine, 2025

Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates.

Owens MC et al.

Nature Communications, 2024

39500865 (PubMed )
Supplement: 41467_2024_53636_MOESM8_ESM.zip › Owens__Shen_et_al._Source_Data › Owens__Shen_et_al._Source_Data_Tables.xlsx › Figure_7

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

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

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

Gadek M et al.

Trends in Molecular Medicine, 2023

Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.

Mitchell OD et al.

Jama Network Open, 2023

37556141 (PubMed )
Supplement: jamanetwopen-e2327351-s001.pdf

Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.

Shen R et al.

Signal Transduction and Targeted Therapy, 2023

37032379 (PubMed )
Supplement: 41392_2023_1358_MOESM4_ESM.xlsx › __

The RNA helicase DDX3 and its role in c-MYC driven germinal center-derived B-cell lymphoma.

Lacroix M et al.

Frontiers in Oncology, 2023

A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.

Maharjan DT et al.

Biomolecules, 2022

36358993 (PubMed )
Supplement: biomolecules-12-01643-s001.zip › Supplemental_Table_S2____PsychiPPI_in_developmental_delay.xlsx › Sheet1

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Guan T et al.

Frontiers in Oncology, 2022

36465410 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_table_4

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

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

Clinical and mutational profiles of adult medulloblastoma groups.

Wong GC et al.

Acta Neuropathologica Communications, 2020

33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation

The X-Linked DDX3X RNA Helicase Dictates Translation Reprogramming and Metastasis in Melanoma.

Phung B et al.

Cell Reports, 2019

Locus-specific concordance of genomic alterations between tissue and plasma circulating tumor DNA in metastatic melanoma.

Calapre L et al.

Molecular Oncology, 2019

Frequent Mutations in Natural Killer/T Cell Lymphoma.

Zhang Y et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018

Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma.

Jiang L et al.

Nature Genetics, 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."