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Results for the Protein: NP_443716
16554625

intraflagellar transport protein 122 homolog isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  CRANIOECTODERMAL DYSPLASIA 1
3
2
3
2
0
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Default View:

WD40 - cd00200
WD40 - smart00320


RefSeq Protein: NP_443716
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
WD40cd002000.000173302
WD40smart003200.00032199238

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs111401191 Polymorphismp.ARG576GLNN/A
dbSNPrs61746791 Polymorphismp.TYR464ASNN/A
OMIM606045.0002 Diseasep.SER211PHECRANIOECTODERMAL DYSPLASIA 1
OMIM606045.0004 Diseasep.TRP7CYSCRANIOECTODERMAL DYSPLASIA 1
OMIM606045.0001 Diseasep.VAL391GLYCRANIOECTODERMAL DYSPLASIA 1



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