R38Q (p.Arg38Gln) variant of PAX6 (Paired box protein Pax-6)
R38Q (p.Arg38Gln) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Irido-corneo-trabecular dysgenesis; Aniridia 1. The record also includes experimental measurements, published literature, and structural context.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- rs2496291260
- ClinGen CA379959518
- ClinVar RCV003074949
- ClinVar RCV003491223
- Pathogenic/Likely pathogenic
- Irido-corneo-trabecular dysgenesis; Aniridia 1
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Irido-corneo-trabecular dysgenesis; Aniridia 1)
- EBI: Pathogenic (in FVH1)
- UniProt: Pathogenic (in FVH1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.621
- Cited in: Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on… (PMID 31700164)
- Cited in: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract. (PMID 29914532)