Results for the protein: P04150

Results for the Protein: P04150

121069

2908

NR3C1

NCBI, UniProt

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	Swiss-Prot Protein: P04150 Identical to: NP_001018084, NP_001018087, NP_001018085, NP_000167, NP_001018086 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HOLI	smart00430	6e-33	567	728

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_013472	Disease	p.ARG477HIS	Glucocorticoid resistance (GCRES)
Swiss-Prot	VAR_014140	Polymorphism	p.ARG23LYS	N/A
dbSNP	rs6195	Polymorphism	p.ASN363SER	N/A
Swiss-Prot	VAR_015630	Polymorphism	p.ASP233ASN	N/A
Swiss-Prot	VAR_004676	Disease	p.ASP641VAL	Glucocorticoid resistance (GCRES)
Swiss-Prot	VAR_015631	Polymorphism	p.CYS421TYR	N/A
Swiss-Prot	VAR_013473	Disease	p.GLY679SER	Glucocorticoid resistance (GCRES)
Swiss-Prot	VAR_015632	Disease	p.ILE559ASN	Glucocorticoid resistance (GCRES)
Swiss-Prot	VAR_015633	Disease	p.ILE747MET	Glucocorticoid resistance (GCRES)
Swiss-Prot	VAR_015629	Polymorphism	p.LEU112PHE	N/A
Swiss-Prot	VAR_004678	Polymorphism	p.LEU753PHE	N/A
Swiss-Prot	VAR_015628	Polymorphism	p.PHE29LEU	N/A
Swiss-Prot	VAR_014622	Polymorphism	p.PHE65VAL	N/A
Swiss-Prot	VAR_025014	Polymorphism	p.VAL571ALA	N/A
Swiss-Prot	VAR_004677	Disease	p.VAL729ILE	Glucocorticoid resistance (GCRES)
OMIM	138040.0013	Disease	p.ARG476HIS	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0017	Disease	p.ARG672TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0001	Disease	p.ASP640VAL	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	600983.0016	Disease	p.CYS436TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0020	Disease	p.GLU971GLY	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0014	Disease	p.GLY678SER	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0008	Disease	p.ILE558ASN	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0009	Disease	p.ILE746MET	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	138040.0003	Disease	p.LEU752PHE	GLUCOCORTICOID RESISTANCE, CELLULAR
OMIM	138040.0012	Disease	p.LEU772PRO	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0015	Disease	p.PHE736LEU	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0019	Disease	p.SER181LEU	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0018	Disease	p.SER674TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0010	Disease	p.VAL570ALA	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID\|\|RESISTANCE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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