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Results for the Protein: P55075
1706791

FGF8_HUMAN RecName: Full=Fibroblast growth factor 8; Short=FGF-8; AltName: Full=Androgen-induced growth factor; Short=AIGF; AltName: Full=Heparin-binding growth factor 8; Short=HBGF-8; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 6 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA (HH6)
  HYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
12
0
6
0
6
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FGF - smart00442


Swiss-Prot Protein: P55075
Identical to: NP_149354
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FGFsmart004422.9e-5068195

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_057966Diseasep.ARG116GLYHypogonadotropic hypogonadism 6 with or without anosmia (HH6)
Swiss-ProtVAR_057962Diseasep.HIS14ASNHypogonadotropic hypogonadism 6 with or without anosmia (HH6)
Swiss-ProtVAR_057965Diseasep.LYS89GLUHypogonadotropic hypogonadism 6 with or without anosmia (HH6)
Swiss-ProtVAR_057964Diseasep.PHE40LEUHypogonadotropic hypogonadism 6 with or without anosmia (HH6)
Swiss-ProtVAR_057963Diseasep.PRO26LEUHypogonadotropic hypogonadism 6 with or without anosmia (HH6)
Swiss-ProtVAR_057967Diseasep.THR218METHypogonadotropic hypogonadism 6 with or without anosmia (HH6)
OMIM600483.0005 Diseasep.ARG116GLYHYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
OMIM600483.0001 Diseasep.HIS14ASNHYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA
OMIM600483.0004 Diseasep.LYS89GLUHYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA
OMIM600483.0003 Diseasep.PHE40LEUHYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA
OMIM600483.0002 Diseasep.PRO26LEUHYPOGONADOTROPIC HYPOGONADISM 6 WITH ANOSMIA
OMIM600483.0006 Diseasep.THR218METRECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE



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