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Results for the Protein: Q9GZV9
13626688

FGF23_HUMAN RecName: Full=Fibroblast growth factor 23; Short=FGF-23; AltName: Full=Phosphatonin; AltName: Full=Tumor-derived hypophosphatemia-inducing factor; Contains: RecName: Full=Fibroblast growth factor 23 N-terminal peptide; Contains: RecName: Full=Fibroblast growth factor 23 C-terminal peptide; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
  HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT (ADHR)
  TUMORAL CALCINOSIS, FAMILIAL, HYPERPHOSPHATEMIC
  TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL (HFTC)
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2
5
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FGF - smart00442


Swiss-Prot Protein: Q9GZV9
Identical to: NP_065689
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FGFsmart004422.9e-1136160

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010717Diseasep.ARG176GLNHypophosphatemic rickets, autosomal dominant (ADHR)
Swiss-ProtVAR_010719Diseasep.ARG179GLNHypophosphatemic rickets, autosomal dominant (ADHR)
Swiss-ProtVAR_010718Diseasep.ARG179TRPHypophosphatemic rickets, autosomal dominant (ADHR)
Swiss-ProtVAR_018887Polymorphismp.PRO195SERN/A
Swiss-ProtVAR_023831Diseasep.SER71GLYTumoral calcinosis, hyperphosphatemic, familial (HFTC)
dbSNPrs7955866 Polymorphismp.THR239METN/A
OMIM605380.0001 Diseasep.ARG176GLNHYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
OMIM605380.0002 Diseasep.ARG179TRPHYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
OMIM605380.0004 Diseasep.MET96THRTUMORAL CALCINOSIS, FAMILIAL, HYPERPHOSPHATEMIC
OMIM605380.0003 Diseasep.SER71GLYTUMORAL CALCINOSIS, FAMILIAL, HYPERPHOSPHATEMIC
OMIM605380.0005 Diseasep.SER129PHETUMORAL CALCINOSIS, FAMILIAL, HYPERPHOSPHATEMIC



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