KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
Disease: Cardio-facio-cutaneous syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894366
rs104894366
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.700 GeneticVariation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
dbSNP: rs104894366
rs104894366
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.700 GeneticVariation CLINVAR We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. 17875937 2007
dbSNP: rs104894366
rs104894366
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.700 GeneticVariation CLINVAR 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. 16474405 2006
dbSNP: rs104894366
rs104894366
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.700 GeneticVariation CLINVAR Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction. 8246952 1993