E28* (p.Glu28Ter) variant of SMAD3 (SMAD family member 3)
E28* (p.Glu28Ter) in SMAD3 (SMAD family member 3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- rs863223750
- ClinGen CA323266
- ClinVar RCV000198731
- ClinVar RCV000772179
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)