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Results for the Protein: NP_006110
5174439

fibroblast growth factor 8 isoform B precursor [Homo sapiens]

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 6 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
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Default View:

FGF - smart00442
FGF - pfam00167
FGF - cd00058


RefSeq Protein: NP_006110
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FGFpfam001678.4e-6252178
FGFsmart004422.9e-5050177

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM600483.0005 Diseasep.ARG98GLYHYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
OMIM600483.0001 Diseasep.HIS14ASNHYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA
OMIM600483.0004 Diseasep.LYS71GLUHYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA
OMIM600483.0003 Diseasep.PHE1LEUHYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA
OMIM600483.0002 Diseasep.PRO1LEUHYPOGONADOTROPIC HYPOGONADISM 6 WITH ANOSMIA
OMIM600483.0006 Diseasep.THR200METRECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE



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