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Results for the Protein: Q92979
20532172

NEP1_HUMAN RecName: Full=Ribosomal RNA small subunit methyltransferase NEP1; AltName: Full=18S rRNA (pseudouridine-N1-)-methyltransferase NEP1; AltName: Full=18S rRNA Psi1248 methyltransferase; AltName: Full=Nucleolar protein EMG1 homolog; AltName: Full=Protein C2f; AltName: Full=Ribosome biogenesis protein NEP1

Known Diseases associated with this Protein:
  BOWEN-CONRADI SYNDROME
  BOWEN-CONRADI SYNDROME (BWCNS)
2
2
1
1
2
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Swiss-Prot Protein: Q92979
Identical to: NP_006322
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_050237Polymorphismp.ALA34GLYN/A
dbSNPrs34784123 Polymorphismp.ALA192VALN/A
Swiss-ProtVAR_062480Diseasep.ASP86GLYBowen-Conradi syndrome (BWCNS)
OMIM611531.0001 Diseasep.ASP86GLYBOWEN-CONRADI SYNDROME



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