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Results for the Protein: Q8WXI9
50401096

P66B_HUMAN RecName: Full=Transcriptional repressor p66-beta; AltName: Full=GATA zinc finger domain-containing protein 2B; AltName: Full=p66/p68

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
2
2
2
0
2
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Default View:

GATA - pfam00320


Swiss-Prot Protein: Q8WXI9
Identical to: NP_065750
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GATApfam003201e-07420454

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069363Polymorphismp.ILE316VALN/A
Swiss-ProtVAR_069364Polymorphismp.SER586LEUN/A
OMIM614998.0002 Diseasep.ASN195LYSFSTEMENTAL RETARDATION, AUTOSOMAL DOMINANT 18
OMIM614998.0001 Diseasep.GLN470TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 18



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