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Results for the Protein: Q9BZH6
17368715

WDR11_HUMAN RecName: Full=WD repeat-containing protein 11; AltName: Full=Bromodomain and WD repeat-containing protein 2; AltName: Full=WD repeat-containing protein 15

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 14 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA (HH14)
  HYPOGONADOTROPIC HYPOGONADISM 14 WITHOUT ANOSMIA
8
1
3
0
6
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COG2319 - COG2319
WD40 - cd00200


Swiss-Prot Protein: Q9BZH6
Identical to: NP_060587
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
WD40cd002007.1e-05464822
COG2319COG23190.00038407919

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069195Diseasep.ALA435THRHypogonadotropic hypogonadism 14 with or without anosmia (HH14)
Swiss-ProtVAR_069196Diseasep.ARG448GLNHypogonadotropic hypogonadism 14 with or without anosmia (HH14)
Swiss-ProtVAR_069194Diseasep.ARG395TRPHypogonadotropic hypogonadism 14 with or without anosmia (HH14)
Swiss-ProtVAR_069197Diseasep.HIS690GLNHypogonadotropic hypogonadism 14 with or without anosmia (HH14)
Swiss-ProtVAR_069198Polymorphismp.LYS978GLNN/A
Swiss-ProtVAR_069199Diseasep.PHE1150LEUHypogonadotropic hypogonadism 14 with or without anosmia (HH14)
OMIM606417.0002 Diseasep.ALA435THRHYPOGONADOTROPIC HYPOGONADISM 14 WITHOUT ANOSMIA
OMIM606417.0003 Diseasep.HIS690GLNHYPOGONADOTROPIC HYPOGONADISM 14 WITH ANOSMIA
OMIM606417.0001 Diseasep.PHE1150LEUHYPOGONADOTROPIC HYPOGONADISM 14 WITHOUT ANOSMIA



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