rs104886028
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Medullary carcinoma of thyroid
0.010
GeneticVariation
BEFREE
Large-scale molecular dynamics simulations were completed for H-RAS wt and H-RAS M72I .Western blot analysis demonstrated that both MAPK and PI3K/Akt pathways were activated in the MTC patient carrying the M72I variant.
23934677
2013
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
NOONAN SYNDROME 3
0.800
GeneticVariation
UNIPROT
Noonan syndrome: clinical features, diagnosis, and management guidelines.
20876176
2010
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
CARDIOFACIOCUTANEOUS SYNDROME 2
0.800
GeneticVariation
UNIPROT
Germline KRAS mutations cause Noonan syndrome.
16474405
2006
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
NOONAN SYNDROME 3
0.800
GeneticVariation
UNIPROT
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
16773572
2006
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
NOONAN SYNDROME 3
0.800
GeneticVariation
UNIPROT
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
20949621
2011
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
CARDIOFACIOCUTANEOUS SYNDROME 2
0.800
GeneticVariation
UNIPROT
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
16474404
2006
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
NOONAN SYNDROME 3
0.800
GeneticVariation
UNIPROT
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
17056636
2007
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
CARDIOFACIOCUTANEOUS SYNDROME 2
0.800
GeneticVariation
UNIPROT
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
20949621
2011
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
CARDIOFACIOCUTANEOUS SYNDROME 2
G
0.800
CausalMutation
CLINVAR
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
NOONAN SYNDROME 3
T
0.800
CausalMutation
CLINVAR
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
CARDIOFACIOCUTANEOUS SYNDROME 2
0.800
GeneticVariation
UNIPROT
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
17056636
2007
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
NOONAN SYNDROME 3
0.800
GeneticVariation
UNIPROT
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.
17468812
2007
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
CARDIOFACIOCUTANEOUS SYNDROME 2
0.800
GeneticVariation
UNIPROT
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.
21797849
2012
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
NOONAN SYNDROME 3
0.800
GeneticVariation
UNIPROT
Germline KRAS mutations cause Noonan syndrome.
16474405
2006
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
NOONAN SYNDROME 3
0.800
GeneticVariation
UNIPROT
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.
19396835
2009
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
G
0.700
CausalMutation
CLINVAR
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
16474404
2006
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
17056636
2007
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
20949621
2011
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
G
0.700
CausalMutation
CLINVAR
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
17056636
2007
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
G
0.700
CausalMutation
CLINVAR
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
20949621
2011
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
16474404
2006
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Nodule
0.010
GeneticVariation
BEFREE
Only one point mutation could be found in the N-ras gene codon 61 (Gly to Arg ) in a cold adenomatous nodule which was monoclonal.
11531932
2001
rs104894360
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Noonan Syndrome
A
0.720
CausalMutation
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
rs104894360
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Noonan Syndrome
A
0.720
CausalMutation
CLINVAR
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
18456719
2008
rs104894360
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Noonan Syndrome
C
0.720
GeneticVariation
CLINVAR