E1278K (p.Glu1278Lys) variant of CREBBP (CREB-binding protein)
E1278K (p.Glu1278Lys) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rubinstein-Taybi syndrome; Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome. The record also includes published literature and structural context.
E1278K (p.Glu1278Lys) variant details
- p.Glu1278Lys
- rs267606752
- ClinGen CA254815
- NCI-TCGA Cosmic COSV5212
- cosmic curated COSV52120
- Pathogenic/Likely pathogenic
- Rubinstein-Taybi syndrome; Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Rubinstein-Taybi syndrome; Menke-Hennekam syndrome 1; Rubinstein)
- EBI: Pathogenic (in RSTS1)
- UniProt: Pathogenic (in RSTS1)
- Structural context available
- Cited in: Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. (PMID 12566391)
- Cited in: Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. (PMID 15706485)