Annotation Detail
Information
- Associated Genes
- KRAS
- Associated Variants
-
KRAS c.*12A>T
(
ENST00000685328.1,
ENST00000256078.10,
ENST00000311936.8,
ENST00000557334.6,
ENST00000688940.1,
ENST00000692768.1,
ENST00000693229.1 )
KRAS c.*12A>G ( ENST00000688940.1, ENST00000256078.10, ENST00000557334.6, ENST00000693229.1, ENST00000685328.1, ENST00000692768.1, ENST00000311936.8 )
KRAS p.Pro34Leu (p.P34L) ( ENST00000557334.6, ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Pro34Arg (p.P34R) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Val14Ile (p.V14I) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS c.*12A>T ( ENST00000256078.10, ENST00000311936.8, ENST00000557334.6, ENST00000685328.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS c.*12A>G ( ENST00000256078.10, ENST00000311936.8, ENST00000557334.6, ENST00000685328.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Pro34Leu (p.P34L) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Pro34Arg (p.P34R) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Val14Ile (p.V14I) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 ) - Associated Disease
- Cardio-facio-cutaneous syndrome
- Source Database
- DisGeNET
- Description
- We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome.
- Pubmed
- 16474405
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.244071628081205
- Year of publication
- 2006
Drugs