Q14* (p.Gln14Ter) variant of DDX3X (ATP-dependent RNA helicase DDX3X)

Name: DDX3X Q14* (p.Gln14Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

Q14* (p.Gln14Ter) in DDX3X (ATP-dependent RNA helicase DDX3X) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Q14* (p.Gln14Ter) variant details

p.Gln14Ter
rs1555950676
ClinGen CA412761583
ClinVar RCV000598857
ClinVar RCV001260599
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)