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Results for the Protein: Q13835
20138951

PKP1_HUMAN RecName: Full=Plakophilin-1; AltName: Full=Band 6 protein; Short=B6P

Known Diseases associated with this Protein:
  ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME
1
6
1
5
1
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Default View:

ARM - smart00185


Swiss-Prot Protein: Q13835
Identical to: NP_000290
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ARMsmart001853.8e-06318359

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062171Polymorphismp.ALA463VALN/A
dbSNPrs34626929 Polymorphismp.ARG116HISN/A
dbSNPrs34704938 Polymorphismp.CYS161TYRN/A
dbSNPrs1626370 Polymorphismp.GLY415ASPN/A
dbSNPrs35507614 Polymorphismp.ILE196VALN/A
dbSNPrs1779297 Polymorphismp.LYS260ASNN/A
OMIM601975.0001 Diseasep.GLN304TERECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME



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