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Results for the Protein: Q96AY3
23396594

FKB10_HUMAN RecName: Full=Peptidyl-prolyl cis-trans isomerase FKBP10; Short=PPIase FKBP10; AltName: Full=65 kDa FK506-binding protein; Short=65 kDa FKBP; Short=FKBP-65; AltName: Full=FK506-binding protein 10; Short=FKBP-10; AltName: Full=Immunophilin FKBP65; AltName: Full=Rotamase; Flags: Precursor

Known Diseases associated with this Protein:
  BRUCK SYNDROME 1
  BRUCK SYNDROME 1 (BRKS1)
  OSTEOGENESIS IMPERFECTA, TYPE XI
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1
3
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3
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Swiss-Prot Protein: Q96AY3
Identical to: NP_068758
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069903Diseasep.ARG115GLNBruck syndrome 1 (BRKS1)
Swiss-ProtVAR_069902Diseasep.GLU113LYSBruck syndrome 1 (BRKS1)
dbSNPrs34764749 Polymorphismp.LYS197ARGN/A
Swiss-ProtVAR_069904Diseasep.PRO136LEUBruck syndrome 1 (BRKS1)
OMIM607063.0006 Diseasep.ARG115GLNBRUCK SYNDROME 1
OMIM607063.0008 Diseasep.ARG403TEROSTEOGENESIS IMPERFECTA, TYPE XI
OMIM607063.0010 Diseasep.GLU113LYSBRUCK SYNDROME 1



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