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Results for the Protein: O75531
5921173

BAF_HUMAN RecName: Full=Barrier-to-autointegration factor; AltName: Full=Breakpoint cluster region protein 1; Contains: RecName: Full=Barrier-to-autointegration factor, N-terminally processed

Known Diseases associated with this Protein:
  NESTOR-GUILLERMO PROGERIA SYNDROME
  NESTOR-GUILLERMO PROGERIA SYNDROME (NGPS)
2
0
1
0
1
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Swiss-Prot Protein: O75531
Identical to: NP_003851, NP_001137457
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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_065954Diseasep.ALA12THRNestor-Guillermo progeria syndrome (NGPS)
OMIM603811.0001 Diseasep.ALA12THRNESTOR-GUILLERMO PROGERIA SYNDROME



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