Known Diseases associated with this Protein: |  VAN DER WOUDE SYNDROME 2 (VWS2)
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_026850 | Polymorphism | p.ALA183SER | N/A | | Swiss-Prot | VAR_026851 | Polymorphism | p.ASN241ASP | N/A | | Swiss-Prot | VAR_066494 | Disease | p.ASP523TYR | Van der Woude syndrome 2 (VWS2) | | Swiss-Prot | VAR_026852 | Polymorphism | p.CYS345SER | N/A |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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300669699
WDR65_HUMAN RecName: Full=WD repeat-containing protein 65
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