K49* (p.Lys49Ter) variant of TGFB2 (P61812)
K49* (p.Lys49Ter) in TGFB2 (P61812) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K49* (p.Lys49Ter) variant details
- p.Lys49Ter
- rs2102527516
- ClinGen CA344725387
- ClinVar RCV002007198
- ClinVar RCV004801106
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)