E82* (p.Glu82Ter) variant of PAX6 (Paired box protein Pax-6)
E82* (p.Glu82Ter) 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 published literature and structural context.
E82* (p.Glu82Ter) variant details
- p.Glu82Ter
- rs1131692296
- ClinGen CA379958734
- NCI-TCGA Cosmic COSV5379
- ClinVar RCV000496051
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)