Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC MUTATION
XPC MUTATION
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 ) - Associated Disease
- XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
- Source Database
- DisGeNET
- Description
- Several polymorphisms (Lys(939)Gln, PAT+/- and Ala(499)Val) in the DNA nuclear excision repair gene xeroderma pigmentosum complementation group C (XPC) are thought to have significant effects on cancer risk.
- Pubmed
- 18771913
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.56895758177865
- Year of publication
- 2008
Drugs