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Results for the Protein: P04628
139743

WNT1_HUMAN RecName: Full=Proto-oncogene Wnt-1; AltName: Full=Proto-oncogene Int-1 homolog; Flags: Precursor

Known Diseases associated with this Protein:
  OSTEOGENESIS IMPERFECTA 15 (OI15)
  OSTEOGENESIS IMPERFECTA, TYPE XV
  OSTEOPOROSIS (OSTEOP)
  OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO
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5
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6
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WNT1 - smart00097


Swiss-Prot Protein: P04628
Identical to: NP_005421
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Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069630Diseasep.ARG235TRPOsteoporosis (OSTEOP)
Swiss-ProtVAR_069629Diseasep.CYS218GLYOsteoporosis (OSTEOP)
Swiss-ProtVAR_069627Diseasep.CYS143PHEOsteogenesis imperfecta 15 (OI15)
Swiss-ProtVAR_069628Diseasep.GLY177CYSOsteogenesis imperfecta 15 (OI15)
Swiss-ProtVAR_069631Diseasep.PHE298CYSOsteogenesis imperfecta 15 (OI15)
Swiss-ProtVAR_069632Diseasep.VAL355PHEOsteogenesis imperfecta 15 (OI15)
OMIM164820.0007 Diseasep.ARG235TRPOSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO
OMIM164820.0009 Diseasep.CYS218GLYOSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO
OMIM164820.0003 Diseasep.GLU189TEROSTEOGENESIS IMPERFECTA, TYPE XV
OMIM164820.0004 164820.0008 Diseasep.SER295TEROSTEOGENESIS IMPERFECTA, TYPE XV
OMIM164820.0006 Diseasep.VAL355PHEOSTEOGENESIS IMPERFECTA, TYPE XV



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