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Results for the Protein: Q9H3Z4
15213953

DNJC5_HUMAN RecName: Full=DnaJ homolog subfamily C member 5; AltName: Full=Cysteine string protein; Short=CSP

Known Diseases associated with this Protein:
  CEROID LIPOFUSCINOSIS, NEURONAL, 4B (CLN4B)
  CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT
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Default View:

DnaJ - smart00271
DnaJ - pfam00226
DnaJ - cd06257


Swiss-Prot Protein: Q9H3Z4
Identical to: NP_079495
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DnaJcd062571e-271569
DnaJpfam002263.8e-341577
DnaJsmart002712.1e-301472

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066555Diseasep.LEU115ARGCeroid lipofuscinosis, neuronal, 4B (CLN4B)
OMIM611203.0002 Diseasep.LEU115ARGCEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT



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