R44* (p.Arg44Ter) variant of PAX6 (Paired box protein Pax-6)
R44* (p.Arg44Ter) in PAX6 (Paired box protein Pax-6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AN1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R44* (p.Arg44Ter) variant details
- p.Arg44Ter
- rs141873759
- ClinGen CA379959480
- cosmic curated COSV53792
- ClinVar RCV000496034
- Pathogenic
- in AN1
- Stop Gained
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Population evidence available
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.178
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)