H437Y (p.His437Tyr) variant of STAT3 (P40763)
H437Y (p.His437Tyr) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant. The record also includes published literature and structural context.
H437Y (p.His437Tyr) variant details
- p.His437Tyr
- UniProt VAR 037372
- Pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Missense
- ClinVar: Pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant)
- EBI: Pathogenic (in HIES1)
- UniProt: Pathogenic (in HIES1)
- Structural context available
- Cited in: Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. (PMID 17676033)
- Cited in: STAT3 mutations in the hyper-IgE syndrome. (PMID 17881745)