Results for the protein: NP

Results for the Protein: NP_065830

56243599

57539

WDR35

NCBI

WD repeat-containing protein 35 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
CRANIOECTODERMAL DYSPLASIA 2
SHORT RIB-POLYDACTYLY SYNDROME V

4

4

4

4

0

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Default View: WD40 - cd00200	RefSeq Protein: NP_065830 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2293669	Polymorphism	p.ALA867PRO	N/A
dbSNP	rs113345685	Polymorphism	p.ARG534GLN	N/A
dbSNP	rs1060742	Polymorphism	p.GLN18ARG	N/A
dbSNP	rs1191778	Polymorphism	p.GLU972GLY	N/A
OMIM	613602.0004	Disease	p.ALA864THR	CRANIOECTODERMAL DYSPLASIA 2
OMIM	613602.0006	Disease	p.ARG534TER	SHORT RIB-POLYDACTYLY SYNDROME V
OMIM	613602.0002	Disease	p.GLU615GLY	CRANIOECTODERMAL DYSPLASIA 2
OMIM	613602.0007	Disease	p.TRP261ARG	SHORT RIB-POLYDACTYLY SYNDROME V

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