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Results for the Protein: Q9P2L0
48474987

WDR35_HUMAN RecName: Full=WD repeat-containing protein 35; AltName: Full=Intraflagellar transport protein 121 homolog

Known Diseases associated with this Protein:
  CRANIOECTODERMAL DYSPLASIA 2
  CRANIOECTODERMAL DYSPLASIA 2 (CED2)
  SHORT RIB-POLYDACTYLY SYNDROME 5 (SRPS5)
  SHORT RIB-POLYDACTYLY SYNDROME V
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WD40 - cd00200


Swiss-Prot Protein: Q9P2L0
Identical to: NP_001006658
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062102Polymorphismp.ALA878PRON/A
Swiss-ProtVAR_064582Diseasep.ALA875THRCranioectodermal dysplasia 2 (CED2)
Swiss-ProtVAR_062103Polymorphismp.ALA878THRN/A
dbSNPrs113345685 Polymorphismp.ARG545GLNN/A
dbSNPrs1060742 Polymorphismp.GLN18ARGN/A
Swiss-ProtVAR_064581Diseasep.GLU626GLYCranioectodermal dysplasia 2 (CED2)
dbSNPrs1191778 Polymorphismp.GLU983GLYN/A
Swiss-ProtVAR_065955Diseasep.TRP261ARGShort rib-polydactyly syndrome 5 (SRPS5)
OMIM613602.0004 Diseasep.ALA875THRCRANIOECTODERMAL DYSPLASIA 2
OMIM613602.0006 Diseasep.ARG545TERSHORT RIB-POLYDACTYLY SYNDROME V
OMIM613602.0002 Diseasep.GLU626GLYCRANIOECTODERMAL DYSPLASIA 2
OMIM613602.0007 Diseasep.TRP261ARGSHORT RIB-POLYDACTYLY SYNDROME V



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