E114* (p.Glu114Ter) variant of SMARCE1 (Q969G3)
E114* (p.Glu114Ter) in SMARCE1 (Q969G3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E114* (p.Glu114Ter) variant details
- p.Glu114Ter
- rs2037146773
- ClinGen CA399367060
- ClinVar RCV001226002
- Ensembl rs2037146773
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)