C602F (p.Cys602Phe) variant of AR (Androgen receptor)
C602F (p.Cys602Phe) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Differences in sex development. The record also includes published literature and structural context.
C602F (p.Cys602Phe) variant details
- p.Cys602Phe
- UniProt VAR 009746
- Pathogenic
- Differences in sex development
- Missense
- ClinVar: Pathogenic (Differences in sex development)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe… (PMID 7981689)
- Cited in: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)