KEGG VARIANT: 2908v1

VARIANT: 2908v1

Entry

2908v1                      Variant

Name

NR3C1 mutation

Type

Loss of function

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

PMID:27086682

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

PMID:29685454

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

PMID:29762667

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

All links

Network (1)   
   KEGG NETWORK (1)   
Disease (1)   
   KEGG DISEASE (1)   
Gene (1)   
   OMIMVAR (1)   
Literature (3)   
   PubMed (3)   
All databases (6)   

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