T76A (p.Thr76Ala) variant of ERCC2 (P18074)
T76A (p.Thr76Ala) in ERCC2 (P18074) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XP-D. The record also includes published literature and structural context.
T76A (p.Thr76Ala) variant details
- p.Thr76Ala
- UniProt VAR 017282
- Pathogenic
- in XP-D
- Missense
- EBI: Pathogenic (in XP-D)
- UniProt: Pathogenic (in XP-D)
- Structural context available
- Cited in: The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. (PMID 11156600)
- Cited in: A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. (PMID 10447254)