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Results for the Protein: Q7RTS7
166218812

K2C74_HUMAN RecName: Full=Keratin, type II cytoskeletal 74; AltName: Full=Cytokeratin-74; Short=CK-74; AltName: Full=Keratin-5c; Short=K5C; AltName: Full=Keratin-74; Short=K74; AltName: Full=Type II inner root sheath-specific keratin-K6irs4; AltName: Full=Type-II keratin Kb37

Known Diseases associated with this Protein:
  HYPOTRICHOSIS 3
  HYPOTRICHOSIS 3 (HYPT3)
  WOOLLY HAIR AUTOSOMAL DOMINANT (ADWH)
  WOOLLY HAIR, AUTOSOMAL DOMINANT
4
8
2
6
4
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Filament - pfam00038


Swiss-Prot Protein: Q7RTS7
Identical to: NP_778223
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Filamentpfam000382.1e-140139452

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs75004274 Polymorphismp.ALA487THRN/A
Swiss-ProtVAR_061299Polymorphismp.ARG392GLNN/A
Swiss-ProtVAR_063587Diseasep.ASN148LYSWoolly hair autosomal dominant (ADWH)
dbSNPrs11170177 Polymorphismp.ASN165LYSN/A
dbSNPrs73107581 Polymorphismp.ASP149ASNN/A
Swiss-ProtVAR_065951Diseasep.ASP482ASNHypotrichosis 3 (HYPT3)
dbSNPrs73320318 Polymorphismp.ASP225VALN/A
dbSNPrs670741 Polymorphismp.GLU271ASPN/A
Swiss-ProtVAR_061300Polymorphismp.GLU424LYSN/A
dbSNPrs11170176 Polymorphismp.LEU178GLNN/A
OMIM608248.0001 Diseasep.ASN148LYSWOOLLY HAIR, AUTOSOMAL DOMINANT
OMIM608248.0003 Diseasep.ASP482ASNHYPOTRICHOSIS 3



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