Q89* (p.Gln89Ter) variant of PAX6 (Paired box protein Pax-6)
Q89* (p.Gln89Ter) 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.
Q89* (p.Gln89Ter) variant details
- p.Gln89Ter
- rs1131692297
- ClinGen CA379958636
- ClinVar RCV000495990
- ClinVar RCV001865557
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)