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Results for the Protein: Q8NFJ6
33112425

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 ↕
7tm_1pfam000014.2e-4976333

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_030963Polymorphismp.ARG268CYSN/A
Swiss-ProtVAR_030957Polymorphismp.ARG85CYSN/A
Swiss-ProtVAR_030959Diseasep.ARG164GLNHypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-ProtVAR_030958Diseasep.ARG85HISHypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-ProtVAR_030962Diseasep.GLN210ARGHypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-ProtVAR_030960Diseasep.LEU173ARGHypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-ProtVAR_030965Diseasep.MET323ILEHypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-ProtVAR_030964Diseasep.PRO290SERHypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-ProtVAR_069965Diseasep.SER202GLYHypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-ProtVAR_030967Polymorphismp.THR335METN/A
Swiss-ProtVAR_030961Diseasep.TRP178SERHypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-ProtVAR_069964Diseasep.VAL115METHypogonadotropic hypogonadism 3 with or without anosmia (HH3)
Swiss-ProtVAR_030966Polymorphismp.VAL331METN/A
OMIM607123.0003 Diseasep.ARG85HISHYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA
OMIM607123.0002 Diseasep.GLN210ARGHYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA
OMIM607123.0001 Diseasep.LEU173ARGHYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA
OMIM607123.0005 Diseasep.MET323ILEHYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA



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