KEGG   VARIANT: 2908v1
Entry
2908v1                      Variant                                
Name
NR3C1 mutation
Gene
NR3C1  nuclear receptor subfamily 3 group C member 1 [KO:K05771]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138040
Network
nt06310  CRH-ACTH-cortisol signaling
Disease
H01702  Glucocorticoid resistance syndrome
Reference
  Authors
Nicolaides N, Lamprokostopoulou A, Sertedaki A, Charmandari E
  Title
Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance.
  Journal
Hormones (Athens) 15:23-34 (2016)
DOI:10.14310/horm.2002.1660
Reference
  Authors
Vitellius G, Trabado S, Bouligand J, Delemer B, Lombes M
  Title
Pathophysiology of Glucocorticoid Signaling.
  Journal
Ann Endocrinol (Paris) 79:98-106 (2018)
DOI:10.1016/j.ando.2018.03.001
Reference
  Authors
Kino T
  Title
Single Nucleotide Variations of the Human GR Gene Manifested as Pathologic Mutations or Polymorphisms.
  Journal
Endocrinology 159:2506-2519 (2018)
DOI:10.1210/en.2017-03254
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