rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance.
|
27120390 |
2016 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional characterization of the hGRαT556I causing Chrousos syndrome.
|
26541474 |
2016 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation of the hGR gene causing Chrousos syndrome.
|
26031419 |
2015 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities.
|
24483153 |
2014 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel point mutation in the DNA-binding domain (DBD) of the human glucocorticoid receptor causes primary generalized glucocorticoid resistance by disrupting the hydrophobic structure of its DBD.
|
23426617 |
2013 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene.
|
21362280 |
2011 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain.
|
20335448 |
2010 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance.
|
17635946 |
2007 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: the importance of the C terminus of hGR LBD in conferring transactivational activity.
|
15769988 |
2005 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators.
|
12050230 |
2002 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking.
|
11701741 |
2001 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance.
|
11589680 |
2001 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation of the glucocorticoid receptor in primary cortisol resistance.
|
7683692 |
1993 |
rs104893909
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance.
|
1704018 |
1991 |
rs104893909
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|