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Results for the Protein: Q9NSB4
148887391

KRT82_HUMAN RecName: Full=Keratin, type II cuticular Hb2; AltName: Full=Keratin-82; Short=K82; AltName: Full=Type II hair keratin Hb2; AltName: Full=Type-II keratin Kb22

Known Diseases associated with this Protein:
  MONILETHRIX
1
3
1
2
1
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Filament - pfam00038


Swiss-Prot Protein: Q9NSB4
Identical to: NP_149022
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Filamentpfam000381.1e-127119430

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1732263 Polymorphismp.GLU452ASPN/A
Swiss-ProtVAR_032786Polymorphismp.GLU219GLNN/A
dbSNPrs2658658 Polymorphismp.THR458METN/A
OMIM602765.0001 Diseasep.GLU407LYSMONILETHRIX



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