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Results for the Protein: P11487
122748

FGF3_HUMAN RecName: Full=Fibroblast growth factor 3; Short=FGF-3; AltName: Full=Heparin-binding growth factor 3; Short=HBGF-3; AltName: Full=Proto-oncogene Int-2; Flags: Precursor

Known Diseases associated with this Protein:
  DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA (LAMM)
  DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
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Default View:

FGF - smart00442
FGF - pfam00167
FGF - cd00058


Swiss-Prot Protein: P11487
Identical to: NP_005238
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FGFcd000589.1e-6746182
FGFpfam001671.8e-6444179
FGFsmart004423.5e-7142181

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060492Diseasep.LEU6PRODeafness with labyrinthine aplasia, microtia and microdontia (LAMM)
Swiss-ProtVAR_031848Diseasep.SER156PRODeafness with labyrinthine aplasia, microtia and microdontia (LAMM)
OMIM164950.0002 Diseasep.ARG104TERDEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
OMIM164950.0004 Diseasep.GLY66CYSDEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
OMIM164950.0005 Diseasep.LEU6PRODEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
OMIM164950.0001 Diseasep.SER156PRODEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
OMIM164950.0008 Diseasep.TYR106CYSDEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
OMIM164950.0007 Diseasep.TYR49CYSDEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA



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