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 )
EGFR p.Gly719Asp (p.G719D) ( ENST00000275493.7, ENST00000455089.5, ENST00000450046.2 )
EGFR p.Gly719Ala (p.G719A) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
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 )
EGFR p.Gly719Asp (p.G719D) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Ala (p.G719A) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
Non-small cell lung carcinoma
Source Database
DisGeNET
Description
Low frequency KRAS active (G12R) and EGFR kinase domain mutations (G719A) were identified in one NSCLC patient.
Pubmed
24200637
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.321301873058829
Year of publication
2013
Drugs