Results for the protein: NP

Results for the Protein: NP_001012781

61676184

2798

GNRHR

NCBI

gonadotropin-releasing hormone receptor isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  FERTILE EUNUCH SYNDROME, INCLUDED
  HYPOGONADOTROPIC HYPOGONADISM 7 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA

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Default View:	RefSeq Protein: NP_001012781 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	138850.0004	Disease	p.ALA129ASP	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0012	Disease	p.ALA171THR	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0002	Disease	p.ARG219GLN	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0008	Disease	p.ARG139HIS	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0009 138850.0013	Disease	p.ASN10LYS	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0001	Disease	p.GLN106ARG	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA\|\|FERTILE EUNUCH SYNDROME, INCLUDED
OMIM	138850.0013	Disease	p.GLN11LYS	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0010	Disease	p.GLU90LYS	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0007	Disease	p.LEU271TER	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0014	Disease	p.PRO277LEU	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0005	Disease	p.SER1ARG	HYPOGONADOTROPIC HYPOGONADISM 7 WITH ANOSMIA
OMIM	138850.0006	Disease	p.SER168ARG	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0003	Disease	p.TYR241CYS	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA

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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