E74* (p.Glu74Ter) variant of MEF2C (Q06413)

Name: MEF2C E74* (p.Glu74Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

E74* (p.Glu74Ter) 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.

E74* (p.Glu74Ter) variant details

p.Glu74Ter
rs2153074000
ClinGen CA360424843
ClinVar RCV001684642
Ensembl rs2153074000
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of… (PMID 28794905)
Cited in: MEF2C-Related Disorder. (PMID 39666846)