R26Q (p.Arg26Gln) variant of PAX6 (Paired box protein Pax-6)
R26Q (p.Arg26Gln) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aniridia 1. The record also includes experimental measurements, published literature, and structural context.
R26Q (p.Arg26Gln) variant details
- p.Arg26Gln
- rs2496299328
- ClinGen CA379959597
- ClinVar RCV003883478
- ClinVar RCV004560325
- Likely pathogenic
- Aniridia 1
- Missense
- ClinVar: Likely pathogenic (Aniridia 1)
- EBI: Pathogenic (in ASGD5)
- UniProt: Pathogenic (in ASGD5)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.0941
- Cited in: Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on… (PMID 31700164)
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)