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Results for the Protein: Q14533
311033435

KRT81_HUMAN RecName: Full=Keratin, type II cuticular Hb1; AltName: Full=Hair keratin K2.9; AltName: Full=Keratin, hair, basic, 1; AltName: Full=Keratin-81; Short=K81; AltName: Full=Metastatic lymph node 137 gene protein; Short=MLN 137; AltName: Full=Type II hair keratin Hb1; AltName: Full=Type-II keratin Kb21; AltName: Full=ghHKb1; Short=ghHb1

Known Diseases associated with this Protein:
  MONILETHRIX
  MONILETHRIX (MLTRX)
4
4
2
2
4
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Filament - pfam00038


Swiss-Prot Protein: Q14533
Identical to: NP_002272
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Filamentpfam000383.3e-128105416

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_018115Polymorphismp.ARG316CYSN/A
Swiss-ProtVAR_018116Diseasep.GLU402LYSMonilethrix (MLTRX)
Swiss-ProtVAR_018117Diseasep.GLU413LYSMonilethrix (MLTRX)
Swiss-ProtVAR_018113Polymorphismp.GLY52ARGN/A
dbSNPrs6580873 Polymorphismp.LEU248ARGN/A
dbSNPrs79897879 Polymorphismp.SER13ARGN/A
OMIM602153.0002 Diseasep.GLU402LYSMONILETHRIX
OMIM602153.0001 Diseasep.GLU413LYSMONILETHRIX



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