Y61* (p.Tyr61Ter) variant of PAX6 (Paired box protein Pax-6)
Y61* (p.Tyr61Ter) in PAX6 (Paired box protein Pax-6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y61* (p.Tyr61Ter) variant details
- p.Tyr61Ter
- rs760490431
- ClinGen CA379959000
- ClinVar RCV002037739
- ExAC rs760490431
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)