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Results for the Protein: P02533
229463044

K1C14_HUMAN RecName: Full=Keratin, type I cytoskeletal 14; AltName: Full=Cytokeratin-14; Short=CK-14; AltName: Full=Keratin-14; Short=K14

Known Diseases associated with this Protein:
  EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 (EBSB1)
  EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (DM-EBS)
  EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE (K-EBS)
  EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE (WC-EBS)
37
5
0
0
42
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Filament - pfam00038


Swiss-Prot Protein: P02533
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Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010447Diseasep.ALA247ASPEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_010449Diseasep.ALA274ASPEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_023725Diseasep.ALA413THREpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_010437Polymorphismp.ALA94THRN/A
Swiss-ProtVAR_003837Diseasep.ARG125CYSEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_031636Diseasep.ARG148CYSEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010451Diseasep.ARG388CYSEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_023721Diseasep.ARG125GLYEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_003838Diseasep.ARG125HISEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_031637Diseasep.ARG388HISEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_031635Diseasep.ARG134PROEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_027718Diseasep.ARG211PROEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_031639Diseasep.ARG416PROEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_027721Diseasep.ARG417PROEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_010444Diseasep.ARG125SEREpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_023720Diseasep.ASN123LYSEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_010443Diseasep.ASN123SEREpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_010448Diseasep.ASP273GLYEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_055347Polymorphismp.CYS63TYRN/A
Swiss-ProtVAR_010441Diseasep.GLN120ARGEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_003839Diseasep.GLU144ALAEpidermolysis bullosa simplex, autosomal recessive 1 (EBSB1)
Swiss-ProtVAR_049784Polymorphismp.GLU215LYSN/A
Swiss-ProtVAR_010452Diseasep.GLU422LYSEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010450Diseasep.ILE377ASNEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_003845Diseasep.LEU419GLNEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_023724Diseasep.LEU408METEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010442Diseasep.LEU122PHEEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_023722Diseasep.LEU130PROEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_010446Diseasep.LEU143PROEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_003843Diseasep.LEU384PROEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_010438Diseasep.LYS116ASNEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_003841Diseasep.MET272ARGEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_010439Polymorphismp.MET119ILEN/A
Swiss-ProtVAR_010440Diseasep.MET119THREpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_027719Diseasep.MET272THREpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_023719Diseasep.MET119VALEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010445Diseasep.TYR129ASPEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_031638Diseasep.TYR415CYSEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_003844Diseasep.TYR415HISEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_033496Polymorphismp.VAL133ALAN/A
Swiss-ProtVAR_023723Diseasep.VAL133LEUEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_003840Diseasep.VAL270METEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)



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