E17R (p.Glu17Arg) variant of AKT1 (P31749)
E17R (p.Glu17Arg) in AKT1 (P31749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Proteus syndrome. The record also includes published literature.
E17R (p.Glu17Arg) variant details
- p.Glu17Arg
- rs1595251483
- ClinGen CA915946437
- ClinVar RCV000984546
- Ensembl rs1595251483
- Pathogenic
- Proteus syndrome
- Missense
- ClinVar: Pathogenic (Proteus syndrome)
- EBI: Pathogenic (in PROTEUSS and breast cancer)
- UniProt: Pathogenic (in PROTEUSS and breast cancer)
- Cited in: Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. (PMID 10360391)
- Cited in: Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. (PMID 15372514)