E34* (p.Glu34Ter) variant of XPC (Q01831)
E34* (p.Glu34Ter) in XPC (Q01831) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E34* (p.Glu34Ter) variant details
- p.Glu34Ter
- rs2470320911
- ClinGen CA351543586
- ClinVar RCV002791156
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available