R214S (p.Arg214Ser) variant of PAX6 (Paired box protein Pax-6)
R214S (p.Arg214Ser) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis. The record also includes published literature and structural context.
R214S (p.Arg214Ser) variant details
- p.Arg214Ser
- rs1459535494
- ClinGen CA379956893
- ClinVar RCV002824883
- Pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- ClinVar: Pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)