E34* (p.Glu34Ter) variant of MEF2C (Q06413)

Name: MEF2C E34* (p.Glu34Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

E34* (p.Glu34Ter) in MEF2C (Q06413) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

E34* (p.Glu34Ter) variant details

p.Glu34Ter
rs2153074822
ClinGen CA913184777
ClinVar RCV000033230
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation… (PMID 20513142)
Cited in: MEF2C-Related Disorder. (PMID 39666846)