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
Cutaneous Melanoma
Source Database
DisGeNET
Description
Comprehensive assessment of the association of ERCC2 Lys751Gln polymorphism with susceptibility to cutaneous melanoma.
Pubmed
23494240
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Year of publication
2013
Drugs