Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.E348K
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DDX3X

NM_001356.5:p.E348K

Associated Papers

Pathogenic mutations disrupt stress granules assembly in patients with DDX3X neurodevelopmental disorder.

Bi Y et al.

Human Molecular Genetics, 2025

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 transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

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

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L13

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

Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Izquierdo E et al.

Oncotarget, 2017

29340109 (PubMed )
Supplement: oncotarget-08-112036-s004.xlsx › Samples

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."