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
Paroxysmal atrial tachycardia
Source Database
DisGeNET
Description
This meta-analysis shows that the XPC PAT and Ala499Val polymorphisms may be associated with an increased risk of HNC, while XPC Lys939Gln may not be associated with HNC risk.
Pubmed
24338715
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00570027931368637
Year of publication
2013
Drugs