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Results for the Protein: P78385
218511666

KRT83_HUMAN RecName: Full=Keratin, type II cuticular Hb3; AltName: Full=Hair keratin K2.10; AltName: Full=Keratin-83; Short=K83; AltName: Full=Type II hair keratin Hb3; AltName: Full=Type-II keratin Kb23

Known Diseases associated with this Protein:
  MONILETHRIX (MLTRX)
1
3
0
3
1
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Filament - pfam00038


Swiss-Prot Protein: P78385
Identical to: NP_002273
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Filamentpfam000382e-127110421

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2857663 Polymorphismp.ARG149CYSN/A
Swiss-ProtVAR_023052Diseasep.GLU407LYSMonilethrix (MLTRX)
dbSNPrs2857671 Polymorphismp.HIS493TYRN/A
dbSNPrs2852464 Polymorphismp.ILE279METN/A



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