Annotation Detail

Information
Associated Genes
ERCC2
Associated Variants
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
Associated Disease
Malignant neoplasm of lung
Source Database
DisGeNET
Description
ERCC2 Lys751Gln polymorphism is associated with lung cancer among Caucasians.
Pubmed
20627704
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.213843535476095
Year of publication
2010
Drugs