Known Diseases associated with this Protein: |  CARPENTER SYNDROME 1 (CRPT1)
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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_034902 | Disease | p.CYS85ARG | Carpenter syndrome 1 (CRPT1) | | dbSNP | rs1040461 | Polymorphism | p.GLY207SER | N/A | | Swiss-Prot | VAR_034901 | Polymorphism | p.LYS40ARG | N/A | | Swiss-Prot | VAR_065294 | Disease | p.MET12LYS | Carpenter syndrome 1 (CRPT1) | | Swiss-Prot | VAR_034903 | Polymorphism | p.SER101ALA | 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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12643897
RAB23_HUMAN RecName: Full=Ras-related protein Rab-23; Flags: Precursor
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