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Results for the Protein: Q9NPE3
54036209

NOP10_HUMAN RecName: Full=H/ACA ribonucleoprotein complex subunit 3; AltName: Full=Nucleolar protein 10; AltName: Full=Nucleolar protein family A member 3; AltName: Full=snoRNP protein NOP10

Known Diseases associated with this Protein:
  DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 (DKCB1)
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Default View:

COG2260 - COG2260
Nop10p - pfam04135


Swiss-Prot Protein: Q9NPE3
Identical to: NP_061118
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG2260COG22608e-16159
Nop10ppfam041352.9e-30353

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_043725Diseasep.ARG34TRPDyskeratosis congenita, autosomal recessive, 1 (DKCB1)



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