C302Y (p.Cys302Tyr) variant of AIRE (Autoimmune regulator)
C302Y (p.Cys302Tyr) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polyglandular autoimmune syndrome, type 1. The record also includes published literature and structural context.
C302Y (p.Cys302Tyr) variant details
- p.Cys302Tyr
- UniProt VAR 076942
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. (PMID 26084028)