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Results for the Protein: Q12824
51338799

SNF5_HUMAN RecName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; AltName: Full=BRG1-associated factor 47; Short=BAF47; AltName: Full=Integrase interactor 1 protein; AltName: Full=SNF5 homolog; Short=hSNF5

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 (MRD15)
  SCHWANNOMATOSIS
  SCHWANNOMATOSIS, SOMATIC
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SNF5 - pfam04855


Swiss-Prot Protein: Q12824
Identical to: NP_003064
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SNF5pfam048551.2e-101178373

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068179Diseasep.ARG377HISMental retardation, autosomal dominant 15 (MRD15)
OMIM601607.0014 Diseasep.ARG37HISMENTAL RETARDATION, AUTOSOMAL DOMINANT 15
OMIM601607.0013 Diseasep.ARG377HISMENTAL RETARDATION, AUTOSOMAL DOMINANT 15
OMIM601607.0005 Diseasep.GLN12TERSCHWANNOMATOSIS
OMIM601607.0006 Diseasep.GLN182TERSCHWANNOMATOSIS, SOMATIC
OMIM601607.0010 Diseasep.GLU31VALSCHWANNOMATOSIS
OMIM601607.0011 Diseasep.PRO48LEUSCHWANNOMATOSIS



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