Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.S382R
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DDX3X

NM_001356.5:p.S382R

Associated Papers

Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates.

Owens MC et al.

Nature Communications, 2024

Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.

Tesi B et al.

The Lancet Regional Health. Europe, 2024

38803632 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table_4

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_S21_LENNOX_composite_phenotypic_score.xlsx › Supplementary_Data_S17_LENNOX_c

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

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

Prospective and detailed behavioral phenotyping in DDX3X syndrome.

Tang L et al.

Molecular Autism, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
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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."