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 pancreas
Source Database
DisGeNET
Description
Prognostic factors in gemcitabine-cisplatin polychemotherapy regimens in pancreatic cancer: XPD-Lys751Gln polymorphism strikes back.
Pubmed
23390054
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2013
Drugs