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Known Diseases associated with this Protein: |  MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
| VARIANT OF UNKNOWN SIGNIFICANCE
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_068215 | Polymorphism | p.TYR73CYS | N/A | | OMIM | 603111.0002 | Disease | p.ARG239TER | MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO | | OMIM | 603111.0004 | Disease | p.TRP104TER | MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO | | OMIM | 603111.0001 | Disease | p.TYR73CYS | VARIANT OF UNKNOWN SIGNIFICANCE |
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 |
|
61247587
SMCE1_HUMAN RecName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1; AltName: Full=BRG1-associated factor 57; Short=BAF57
3
1
3
0
1
