E31* (p.Glu31Ter) variant of PAX6 (Paired box protein Pax-6)
E31* (p.Glu31Ter) in PAX6 (Paired box protein Pax-6) is a protein-truncating change. The record also includes experimental measurements and structural context.
E31* (p.Glu31Ter) variant details
- p.Glu31Ter
- cosmic curated COSV99570
- Stop Gained
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.719