Known Diseases associated with this Protein: |  CARPENTER SYNDROME 2 (CRPT2)
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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_069306 | Disease | p.ARG1566HIS | Carpenter syndrome 2 (CRPT2) | | Swiss-Prot | VAR_069305 | Disease | p.GLY199ARG | Carpenter syndrome 2 (CRPT2) | | Swiss-Prot | VAR_069307 | Disease | p.SER2434GLY | Carpenter syndrome 2 (CRPT2) |
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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218511690
MEGF8_HUMAN RecName: Full=Multiple epidermal growth factor-like domains protein 8; Short=Multiple EGF-like domains protein 8; AltName: Full=Epidermal growth factor-like protein 4; Short=EGF-like protein 4; Flags: Precursor
3
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