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Results for the Protein: Q9BZI7
60390643

REN3B_HUMAN RecName: Full=Regulator of nonsense transcripts 3B; AltName: Full=Nonsense mRNA reducing factor 3B; AltName: Full=Up-frameshift suppressor 3 homolog B; Short=hUpf3B; AltName: Full=Up-frameshift suppressor 3 homolog on chromosome X; Short=hUpf3p-X

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
  MENTAL RETARDATION, X-LINKED, SYNDROMIC, 14 (MRXS14)
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1
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Smg4_UPF3 - pfam03467


Swiss-Prot Protein: Q9BZI7
Identical to: NP_542199
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Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_037666Diseasep.TYR160ASPMental retardation, X-linked, syndromic, 14 (MRXS14)
OMIM300298.0003 Diseasep.ARG430TERMENTAL RETARDATION, X-LINKED, SYNDROMIC 14
OMIM300298.0004 Diseasep.TYR160ASPMENTAL RETARDATION, X-LINKED, SYNDROMIC 14



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