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Results for the Protein: Q9HBG6
212276436

IF122_HUMAN RecName: Full=Intraflagellar transport protein 122 homolog; AltName: Full=WD repeat-containing protein 10; AltName: Full=WD repeat-containing protein 140

Known Diseases associated with this Protein:
  CRANIOECTODERMAL DYSPLASIA 1
  CRANIOECTODERMAL DYSPLASIA 1 (CED1)
6
2
3
2
3
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Default View:

WD40 - smart00320
WD40 - pfam00400
WD40 - cd00200


Swiss-Prot Protein: Q9HBG6
Identical to: NP_443715
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
WD40cd002005.7e-0645349
WD40pfam004001.2e-104381
WD40smart003201.3e-104281
WD40smart003200.00032310349

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs111401191 Polymorphismp.ARG687GLNN/A
Swiss-ProtVAR_063585Diseasep.SER322PHECranioectodermal dysplasia 1 (CED1)
Swiss-ProtVAR_063584Diseasep.TRP7CYSCranioectodermal dysplasia 1 (CED1)
dbSNPrs61746791 Polymorphismp.TYR575ASNN/A
Swiss-ProtVAR_063586Diseasep.VAL502GLYCranioectodermal dysplasia 1 (CED1)
OMIM606045.0002 Diseasep.SER322PHECRANIOECTODERMAL DYSPLASIA 1
OMIM606045.0004 Diseasep.TRP7CYSCRANIOECTODERMAL DYSPLASIA 1
OMIM606045.0001 Diseasep.VAL502GLYCRANIOECTODERMAL DYSPLASIA 1



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