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Results for the Protein: NP_001007469
55956801

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
  SCHWANNOMATOSIS
  SCHWANNOMATOSIS, SOMATIC
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Default View:

SNF5 - pfam04855




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SNF5pfam048551.2e-101169364

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM601607.0013 Diseasep.ARG368HISMENTAL RETARDATION, AUTOSOMAL DOMINANT 15
OMIM601607.0014 Diseasep.ARG37HISMENTAL RETARDATION, AUTOSOMAL DOMINANT 15
OMIM601607.0005 Diseasep.GLN12TERSCHWANNOMATOSIS
OMIM601607.0006 Diseasep.GLN173TERSCHWANNOMATOSIS, SOMATIC
OMIM601607.0010 Diseasep.GLU31VALSCHWANNOMATOSIS
OMIM601607.0011 Diseasep.PRO48LEUSCHWANNOMATOSIS



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