E287D (p.Glu287Asp) variant of RB1 (P06400)
E287D (p.Glu287Asp) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinoblastoma. The record also includes published literature and structural context.
E287D (p.Glu287Asp) variant details
- p.Glu287Asp
- rs1555284956
- ClinGen CA388159722
- NCI-TCGA Cosmic COSV5733
- NCI-TCGA Cosmic COSV9992
- Pathogenic
- Retinoblastoma
- Missense
- ClinVar: Pathogenic (Retinoblastoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Retinoblastoma. (PMID 20301625)