E123* (p.Glu123Ter) variant of JAK1 (Tyrosine-protein kinase JAK1)

E123* (p.Glu123Ter) in JAK1 (Tyrosine-protein kinase JAK1) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E123* (p.Glu123Ter) variant details