Known Diseases associated with this Protein: |  ERYTHROCYTOSIS, SOMATIC
| THROMBOCYTHEMIA, SOMATIC
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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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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| dbSNP | rs7972796 | Polymorphism | p.PHE182LEU | N/A | | dbSNP | rs78894077 | Polymorphism | p.PRO242SER | N/A | | dbSNP | rs3184504 | Polymorphism | p.TRP262ARG | N/A | | OMIM | 605093.0002 | Disease | p.GLU208GLN | THROMBOCYTHEMIA, SOMATIC | | OMIM | 605093.0003 | Disease | p.GLU208TER | ERYTHROCYTOSIS, SOMATIC |
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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13628527
SH2B3_HUMAN RecName: Full=SH2B adapter protein 3; AltName: Full=Lymphocyte adapter protein; AltName: Full=Lymphocyte-specific adapter protein Lnk; AltName: Full=Signal transduction protein Lnk
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