Annotation Detail

Information
Associated Genes
KRAS
Associated Variants
KRAS p.Gly12Cys (p.G12C) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly12Arg (p.G12R) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000692768.1, ENST00000686969.1, ENST00000688940.1, ENST00000693229.1 )
KRAS p.Gly12Ser (p.G12S) ( ENST00000685328.1, ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly12Cys (p.G12C) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly12Arg (p.G12R) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly12Ser (p.G12S) ( ENST00000256078.10, ENST00000311936.8, ENST00000685328.1, ENST00000686969.1, ENST00000556131.2, ENST00000557334.6, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
Associated Disease
Adenocarcinoma of lung (disorder)
Source Database
DisGeNET
Description
Presence of the KRAS G12C mutation had 96% specificity and positive predictive value for lung adenocarcinoma, whereas G12R was 99% specific for pancreatic cancer with a positive predictive value of 86%.
Pubmed
23887294
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.145711032977508
Year of publication
2013
Drugs