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Results for the Protein: Q9NX24
68565945

NHP2_HUMAN RecName: Full=H/ACA ribonucleoprotein complex subunit 2; AltName: Full=Nucleolar protein family A member 2; AltName: Full=snoRNP protein NHP2

Known Diseases associated with this Protein:
  DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 (DKCB2)
2
1
0
0
3
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Default View:

RPL8A - COG1358
Ribosomal_L7Ae - pfam01248


Swiss-Prot Protein: Q9NX24
Identical to: NP_060308
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RPL8ACOG13582.8e-2731147
Ribosomal_L7Aepfam012484.7e-2745139

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065870Polymorphismp.ALA118THRN/A
Swiss-ProtVAR_065872Diseasep.TYR139HISDyskeratosis congenita, autosomal recessive, 2 (DKCB2)
Swiss-ProtVAR_065871Diseasep.VAL126METDyskeratosis congenita, autosomal recessive, 2 (DKCB2)



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