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Known Diseases associated with this Protein: |  IL21R IMMUNODEFICIENCY
| IL21R IMMUNODEFICIENCY (IL21RID)
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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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 Default View:
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Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs3093370 | Polymorphism | p.ARG191CYS | N/A | | Swiss-Prot | VAR_069899 | Disease | p.ARG201LEU | IL21R immunodeficiency (IL21RID) | | dbSNP | rs3093386 | Polymorphism | p.GLY484SER | N/A | | Swiss-Prot | VAR_014361 | Polymorphism | p.SER318ARG | N/A | | OMIM | 605383.0002 | Disease | p.ARG179LEU | IL21R IMMUNODEFICIENCY |
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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20454997
IL21R_HUMAN RecName: Full=Interleukin-21 receptor; Short=IL-21 receptor; Short=IL-21R; AltName: Full=Novel interleukin receptor; AltName: CD_antigen=CD360; Flags: Precursor
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