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
gallbladder adenocarcinoma
Source Database
DisGeNET
Description
Ala499Val (C>T) and Lys939Gln (A>C) polymorphisms of the XPC gene: their correlation with the risk of primary gallbladder adenocarcinoma--a case-control study in China.
Pubmed
21113018
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2011
Drugs