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Results for the Protein: P05787
90110027

K2C8_HUMAN RecName: Full=Keratin, type II cytoskeletal 8; AltName: Full=Cytokeratin-8; Short=CK-8; AltName: Full=Keratin-8; Short=K8; AltName: Full=Type-II keratin Kb8

Known Diseases associated with this Protein:
  CIRRHOSIS (CIRRH)
  CIRRHOSIS, CRYPTOGENIC
  CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO, INCLUDED
5
5
2
1
7
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Default View:

Filament - pfam00038


Swiss-Prot Protein: P05787
Identical to: NP_002264
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Filamentpfam000382.1e-17490401

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs201807576 Polymorphismp.ARG23CYSN/A
Swiss-ProtVAR_049805Polymorphismp.ARG401TRPN/A
Swiss-ProtVAR_069107Polymorphismp.GLY429ASPN/A
Swiss-ProtVAR_023060Diseasep.GLY62CYSCirrhosis (CIRRH)
Swiss-ProtVAR_023058Diseasep.GLY53VALCirrhosis (CIRRH)
Swiss-ProtVAR_023061Polymorphismp.ILE63VALN/A
Swiss-ProtVAR_069106Polymorphismp.SER417GLYN/A
Swiss-ProtVAR_023059Diseasep.TYR54CYSCirrhosis (CIRRH)
OMIM148060.0001 Diseasep.GLY33CYSCIRRHOSIS, CRYPTOGENIC||CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO, INCLUDED
OMIM148060.0002 Diseasep.TYR25HISCIRRHOSIS, CRYPTOGENIC



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