Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC p.Pro334Leu (p.P334L)
(
ENST00000285021.12 )
XPC p.Pro334Arg (p.P334R) ( ENST00000285021.12 )
XPC p.Pro334His (p.P334H) ( ENST00000285021.12 )
OGG1 c.948+942T>G, CAMK1 p.His334Pro (p.H334P) ( ENST00000302008.12, ENST00000302036.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1, ENST00000256460.8 )
XPC p.Pro334Leu (p.P334L) ( ENST00000285021.12 )
XPC p.Pro334Arg (p.P334R) ( ENST00000285021.12 )
XPC p.Pro334His (p.P334H) ( ENST00000285021.12 )
OGG1 c.948+942T>G, CAMK1 p.His334Pro (p.H334P) ( ENST00000302008.12, ENST00000302036.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1, ENST00000256460.8 ) - Associated Disease
- xeroderma pigmentosum
- Source Database
- DisGeNET
- Description
- In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutations in XPC perturb other repair processes, such as base excision repair (e.g., the P334H mutation prevents the stimulation of Ogg1 glycosylase because it thwarts the interaction between XPC and Ogg1), thereby leading to a deeper understanding of the molecular repair defect of the XP-C patients.
- Pubmed
- 18809580
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0214935655026647
- Year of publication
- 2008
Drugs