K55* (p.Lys55Ter) variant of PAX6 (Paired box protein Pax-6)
K55* (p.Lys55Ter) 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 experimental measurements, published literature, and structural context.
K55* (p.Lys55Ter) variant details
- p.Lys55Ter
- rs1592546120
- ClinGen CA379959071
- ClinVar RCV000984379
- ClinVar RCV004773211
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.567
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)