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Results for the Protein: Q562E7
403314383

WDR81_HUMAN RecName: Full=WD repeat-containing protein 81

Known Diseases associated with this Protein:
  CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (CAMRQ2)
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2
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Default View:

Beach - pfam02138
Beach - cd06071
COG2319 - COG2319
WD40 - cd00200
WD40 - smart00320
WD40 - pfam00400


Swiss-Prot Protein: Q562E7
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Beachcd060717.7e-111349591
WD40cd002002.1e-0616371941
Beachpfam021381.2e-63347591
COG2319COG23190.0001414481937
WD40pfam004004.5e-0716381676
WD40smart003204.5e-0616371676

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062107Polymorphismp.MET1535VALN/A
Swiss-ProtVAR_068220Diseasep.PRO856LEUCerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2)



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