E27* (p.Glu27Ter) variant of STXBP1 (Syntaxin-binding protein 1)
E27* (p.Glu27Ter) in STXBP1 (Syntaxin-binding protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- rs1564346538
- ClinGen CA375176134
- ClinVar RCV000680112
- ClinVar RCV006556532
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)