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Results for the Protein: P04259
238054404

K2C6B_HUMAN RecName: Full=Keratin, type II cytoskeletal 6B; AltName: Full=Cytokeratin-6B; Short=CK-6B; AltName: Full=Keratin-6B; Short=K6B; AltName: Full=Type-II keratin Kb10

Known Diseases associated with this Protein:
  PACHYONYCHIA CONGENITA 2 (PC2)
  PACHYONYCHIA CONGENITA, TYPE 2
2
7
1
7
1
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Filament - pfam00038


Swiss-Prot Protein: P04259
Identical to: NP_005546
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Filamentpfam000383.9e-169162475

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs428894 Polymorphismp.ASN21SERN/A
dbSNPrs652423 Polymorphismp.ASN227SERN/A
Swiss-ProtVAR_023062Diseasep.GLU472LYSPachyonychia congenita 2 (PC2)
dbSNPrs144860693 Polymorphismp.GLY97ARGN/A
dbSNPrs140878617 Polymorphismp.GLY111ASPN/A
dbSNPrs404970 Polymorphismp.ILE36VALN/A
dbSNPrs437014 Polymorphismp.ILE365VALN/A
dbSNPrs61746354 Polymorphismp.TYR497CYSN/A
OMIM148042.0001 Diseasep.GLU472LYSPACHYONYCHIA CONGENITA, TYPE 2



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