Results for the protein: Q8NFJ6

Results for the Protein: Q8NFJ6

33112425

128674

PROKR2

NCBI, UniProt

PKR2_HUMAN RecName: Full=Prokineticin receptor 2; Short=PK-R2; AltName: Full=G-protein coupled receptor 73-like 1; AltName: Full=GPR73b; AltName: Full=GPRg2

Known Diseases associated with this Protein:
HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (HH3)

13

4

4

0

13

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Default View: 7tm_1 - pfam00001	Swiss-Prot Protein: Q8NFJ6 Identical to: NP_658986 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 ↕
Swiss-Prot	VAR_030963	Polymorphism	p.ARG268CYS	N/A
Swiss-Prot	VAR_030957	Polymorphism	p.ARG85CYS	N/A
Swiss-Prot	VAR_030959	Disease	p.ARG164GLN	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-Prot	VAR_030958	Disease	p.ARG85HIS	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-Prot	VAR_030962	Disease	p.GLN210ARG	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-Prot	VAR_030960	Disease	p.LEU173ARG	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-Prot	VAR_030965	Disease	p.MET323ILE	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-Prot	VAR_030964	Disease	p.PRO290SER	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-Prot	VAR_069965	Disease	p.SER202GLY	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-Prot	VAR_030967	Polymorphism	p.THR335MET	N/A
Swiss-Prot	VAR_030961	Disease	p.TRP178SER	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-Prot	VAR_069964	Disease	p.VAL115MET	Hypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-Prot	VAR_030966	Polymorphism	p.VAL331MET	N/A
OMIM	607123.0003	Disease	p.ARG85HIS	HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA
OMIM	607123.0002	Disease	p.GLN210ARG	HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA
OMIM	607123.0001	Disease	p.LEU173ARG	HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA
OMIM	607123.0005	Disease	p.MET323ILE	HYPOGONADOTROPIC HYPOGONADISM 3 WITH 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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