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Results for the Protein: Q6VY07
52000804

PACS1_HUMAN RecName: Full=Phosphofurin acidic cluster sorting protein 1; Short=PACS-1

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 (MRD17)
2
1
1
0
2
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Default View:

Pacs-1 - pfam10254


Swiss-Prot Protein: Q6VY07
Identical to: NP_060496
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Pacs-1pfam102541.5e-268548961

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069534Diseasep.ARG203TRPMental retardation, autosomal dominant 17 (MRD17)
Swiss-ProtVAR_053797Polymorphismp.PHE302LEUN/A
OMIM607492.0001 Diseasep.ARG203TRPMENTAL RETARDATION, AUTOSOMAL DOMINANT 17



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