Q47* (p.Gln47Ter) variant of PAX6 (Paired box protein Pax-6)
Q47* (p.Gln47Ter) 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.
Q47* (p.Gln47Ter) variant details
- p.Gln47Ter
- rs1554985716
- ClinGen CA379959463
- ClinVar RCV000635405
- Ensembl rs1554985716
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.14
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)