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Results for the Protein: P29371
128364

NK3R_HUMAN RecName: Full=Neuromedin-K receptor; Short=NKR; AltName: Full=NK-3 receptor; Short=NK-3R; AltName: Full=Neurokinin B receptor; AltName: Full=Tachykinin receptor 3

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA (HH11)
  HYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA
7
2
4
1
4
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Default View:

7tm_1 - pfam00001


Swiss-Prot Protein: P29371
Identical to: NP_001050
   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-ProtVAR_049423Polymorphismp.ALA449THRN/A
Swiss-ProtVAR_069963Diseasep.ARG364GLNHypogonadotropic hypogonadism 11 with or without anosmia (HH11)
Swiss-ProtVAR_069177Diseasep.GLY93ASPHypogonadotropic hypogonadism 11 with or without anosmia (HH11)
dbSNPrs2276973 Polymorphismp.LYS286ARGN/A
Swiss-ProtVAR_069178Diseasep.PRO353SERHypogonadotropic hypogonadism 11 with or without anosmia (HH11)
OMIM162332.0001 Diseasep.GLY93ASPHYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA
OMIM162332.0002 Diseasep.PRO353SERHYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA
OMIM162332.0003 Diseasep.TRP275TERHYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA
OMIM162332.0004 Diseasep.TYR256HISHYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA



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