G12C (p.Gly12Cys) variant of PAX6 (Paired box protein Pax-6)
G12C (p.Gly12Cys) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes experimental measurements and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- NCI-TCGA Cosmic COSV5379
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.429