E3* (p.Glu3Ter) variant of AQP2 (Aquaporin-2)

E3* (p.Glu3Ter) in AQP2 (Aquaporin-2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E3* (p.Glu3Ter) variant details