K82* (p.Lys82Ter) variant of ERCC2 (P18074)
K82* (p.Lys82Ter) in ERCC2 (P18074) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K82* (p.Lys82Ter) variant details
- p.Lys82Ter
- rs2514044862
- ClinGen CA406379056
- ClinVar RCV003572252
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available