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Results for the Protein: P04150
121069

GCR_HUMAN RecName: Full=Glucocorticoid receptor; Short=GR; AltName: Full=Nuclear receptor subfamily 3 group C member 1

Known Diseases associated with this Protein:
  GLUCOCORTICOID RESISTANCE (GCRES)
  GLUCOCORTICOID RESISTANCE, CELLULAR
  GLUCOCORTICOID RESISTANCE, FAMILIAL
  GLUCOCORTICOID RESISTANCE, GENERALIZED
  PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID
  PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
  RESISTANCE
20
9
14
1
14
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Default View:

ZnF_C4 - smart00399
HOLI - smart00430




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZnF_C4smart003991.3e-35420489
HOLIsmart004306e-33567728

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013472Diseasep.ARG477HISGlucocorticoid resistance (GCRES)
Swiss-ProtVAR_014140Polymorphismp.ARG23LYSN/A
dbSNPrs6195 Polymorphismp.ASN363SERN/A
Swiss-ProtVAR_015630Polymorphismp.ASP233ASNN/A
Swiss-ProtVAR_004676Diseasep.ASP641VALGlucocorticoid resistance (GCRES)
Swiss-ProtVAR_015631Polymorphismp.CYS421TYRN/A
Swiss-ProtVAR_013473Diseasep.GLY679SERGlucocorticoid resistance (GCRES)
Swiss-ProtVAR_015632Diseasep.ILE559ASNGlucocorticoid resistance (GCRES)
Swiss-ProtVAR_015633Diseasep.ILE747METGlucocorticoid resistance (GCRES)
Swiss-ProtVAR_015629Polymorphismp.LEU112PHEN/A
Swiss-ProtVAR_004678Polymorphismp.LEU753PHEN/A
Swiss-ProtVAR_015628Polymorphismp.PHE29LEUN/A
Swiss-ProtVAR_014622Polymorphismp.PHE65VALN/A
Swiss-ProtVAR_025014Polymorphismp.VAL571ALAN/A
Swiss-ProtVAR_004677Diseasep.VAL729ILEGlucocorticoid resistance (GCRES)
OMIM138040.0013 Diseasep.ARG476HISGLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM600983.0017 Diseasep.ARG672TERPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM138040.0001 Diseasep.ASP640VALGLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM600983.0016 Diseasep.CYS436TERPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM600983.0020 Diseasep.GLU971GLYPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM138040.0014 Diseasep.GLY678SERGLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM138040.0008 Diseasep.ILE558ASNGLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM138040.0009 Diseasep.ILE746METGLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM138040.0003 Diseasep.LEU752PHEGLUCOCORTICOID RESISTANCE, CELLULAR
OMIM138040.0012 Diseasep.LEU772PROGLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM138040.0015 Diseasep.PHE736LEUGLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM600983.0019 Diseasep.SER181LEUPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM600983.0018 Diseasep.SER674TERPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM138040.0010 Diseasep.VAL570ALAPSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID||RESISTANCE



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