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Results for the Protein: NP_060732
16554619

intraflagellar transport protein 122 homolog isoform 3 [Homo sapiens]

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

COG2319 - COG2319
WD40 - cd00200
WD40 - smart00320
WD40 - pfam00400


RefSeq Protein: NP_060732
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
WD40cd002001.4e-113290
COG2319COG23190.000161479
WD40pfam004001.2e-104381
WD40smart003201.3e-104281
WD40smart003200.00032251290

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs111401191 Polymorphismp.ARG628GLNN/A
dbSNPrs61746791 Polymorphismp.TYR516ASNN/A
OMIM606045.0002 Diseasep.SER263PHECRANIOECTODERMAL DYSPLASIA 1
OMIM606045.0004 Diseasep.TRP7CYSCRANIOECTODERMAL DYSPLASIA 1
OMIM606045.0001 Diseasep.VAL443GLYCRANIOECTODERMAL DYSPLASIA 1



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