Q106* (p.Gln106Ter) variant of CREBBP (CREB-binding protein)
Q106* (p.Gln106Ter) in CREBBP (CREB-binding protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q106* (p.Gln106Ter) variant details
- p.Gln106Ter
- rs587783478
- ClinGen CA271384
- ClinVar RCV000145734
- Ensembl rs587783478
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)