E41* (p.Glu41Ter) variant of ERCC2 (P18074)
E41* (p.Glu41Ter) in ERCC2 (P18074) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E41* (p.Glu41Ter) variant details
- p.Glu41Ter
- rs1568546252
- ClinGen CA406379637
- ClinVar RCV000770818
- Ensembl rs1568546252
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)