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Results for the Protein: NP_000517
15431310

keratin, type I cytoskeletal 14 [Homo sapiens]

Known Diseases associated with this Protein:
  DERMATOPATHIA PIGMENTOSA RETICULARIS
  EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
  EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1, INCLUDED
  EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
  EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
  EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
13
3
13
3
0
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Filament - pfam00038


RefSeq Protein: NP_000517
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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 ↕
dbSNPrs3826550 Polymorphismp.ALA94THRN/A
dbSNPrs6503640 Polymorphismp.CYS63TYRN/A
dbSNPrs61729636 Polymorphismp.GLY72SERN/A
OMIM148066.0002 Diseasep.ARG125CYSEPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM148066.0003 Diseasep.ARG125HISEPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM148066.0018 Diseasep.ASN123SEREPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM148066.0016 Diseasep.CYS18TERDERMATOPATHIA PIGMENTOSA RETICULARIS
OMIM148066.0004 Diseasep.GLU144ALAEPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
OMIM148066.0013 Diseasep.GLU422LYSEPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM148066.0012 Diseasep.LEU419GLNEPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM148066.0001 Diseasep.LEU384PROEPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
OMIM148066.0007 Diseasep.MET272ARGEPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
OMIM148066.0010 Diseasep.MET119ILEEPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED||EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1, INCLUDED
OMIM148066.0009 Diseasep.MET119THREPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM148066.0011 Diseasep.TYR415HISEPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM148066.0006 Diseasep.TYR204TEREPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1



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