Noonan Syndrome
|
0.620 |
Biomarker
|
disease |
CLINGEN |
We show that the NS-causing RRAS2 variants affect highly conserved residues localized around the nucleotide binding pocket of the GTPase and are predicted to variably affect diverse aspects of RRAS2 biochemical behavior, including nucleotide binding, GTP hydrolysis, and interaction with effectors.
|
31130282 |
2019 |
Noonan Syndrome
|
0.620 |
Biomarker
|
disease |
CLINGEN |
Here, we report four de novo RRAS2 variants in three individuals with NS.
|
31130285 |
2019 |
Noonan Syndrome
|
0.620 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
|
24705357 |
2014 |
Noonan Syndrome
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
Here, we report four de novo RRAS2 variants in three individuals with NS.
|
31130285 |
2019 |
Noonan Syndrome
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
We show that the NS-causing RRAS2 variants affect highly conserved residues localized around the nucleotide binding pocket of the GTPase and are predicted to variably affect diverse aspects of RRAS2 biochemical behavior, including nucleotide binding, GTP hydrolysis, and interaction with effectors.
|
31130282 |
2019 |
Noonan Syndrome
|
0.620 |
GermlineCausalMutation
|
disease |
ORPHANET |
Here, we report four de novo RRAS2 variants in three individuals with NS.
|
31130285 |
2019 |
Malignant neoplasm of ovary
|
0.600 |
CausalMutation
|
disease |
CGI |
|
|
|
Malignant neoplasm of ovary
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Malignant neoplasm of ovary
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Ovarian Carcinoma
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Ovarian Carcinoma
|
0.500 |
CausalMutation
|
disease |
CGI |
|
|
|
ovarian neoplasm
|
0.400 |
CausalMutation
|
disease |
CGI |
|
|
|
ovarian neoplasm
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Hepatoma, Morris
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice.
|
21147764 |
2011 |
Hepatoma, Novikoff
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice.
|
21147764 |
2011 |
Experimental Hepatoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice.
|
21147764 |
2011 |
Juvenile Myelomonocytic Leukemia
|
0.300 |
Biomarker
|
disease |
CTD_human |
The genomic landscape of juvenile myelomonocytic leukemia.
|
26457647 |
2015 |
Neoplasm of uncertain or unknown behavior of ovary
|
0.300 |
CausalMutation
|
disease |
CGI |
|
|
|
Carcinoma, Ovarian Epithelial
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Noonan Syndrome 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Malignant neoplasm of breast
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Ras-related TC21 is activated by mutation in a breast cancer cell line, but infrequently in breast carcinomas in vivo.
|
9703274 |
1998 |
Malignant neoplasm of breast
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
TC21 is a Ras-like GTPase with high oncogenic potential that is found mutated in some human tumors and overexpressed in breast cancer cell lines.
|
10557073 |
1999 |
Malignant neoplasm of breast
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
A polymorphism in the TC21 promoter associates with an unfavorable tamoxifen treatment outcome in breast cancer.
|
19047159 |
2008 |
Breast Carcinoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
A polymorphism in the TC21 promoter associates with an unfavorable tamoxifen treatment outcome in breast cancer.
|
19047159 |
2008 |
Breast Carcinoma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
TC21 is a Ras-like GTPase with high oncogenic potential that is found mutated in some human tumors and overexpressed in breast cancer cell lines.
|
10557073 |
1999 |