Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC4 p.Arg153His (p.R153H)
(
ENST00000682617.1,
ENST00000575156.5,
ENST00000311895.8 )
ERCC4 p.Arg153Pro (p.R153P) ( ENST00000311895.8, ENST00000575156.5, ENST00000682617.1 )
ERCC4 p.Arg799Trp (p.R799W) ( ENST00000311895.8, ENST00000682617.1 )
ERCC4 p.Arg153His (p.R153H) ( ENST00000311895.8, ENST00000575156.5, ENST00000682617.1 )
ERCC4 p.Arg153Pro (p.R153P) ( ENST00000311895.8, ENST00000575156.5, ENST00000682617.1 )
ERCC4 p.Arg799Trp (p.R799W) ( ENST00000311895.8, ENST00000682617.1 ) - Associated Disease
- xeroderma pigmentosum
- Source Database
- DisGeNET
- Description
- In an attempt to determine how mutations in XPF can lead to such diverse symptoms, the effects of a progeria-causing mutation (XPF(R153P)) were compared to an XP-causing mutation (XPF(R799W)) in vitro and in vivo.
- Pubmed
- 20221251
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00325730246496364
- Year of publication
- 2010
Drugs