C40* (p.Cys40Ter) variant of PAX6 (Paired box protein Pax-6)
C40* (p.Cys40Ter) 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.
C40* (p.Cys40Ter) variant details
- p.Cys40Ter
- rs1329112134
- ClinGen CA379959502
- ClinVar RCV000527030
- ClinVar RCV006362439
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.0867
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)