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Known Diseases associated with this Protein: | FANCONI ANEMIA COMPLEMENTATION GROUP D2 (FANCD2)
| FANCONI ANEMIA, COMPLEMENTATION GROUP D2
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_025832 | Polymorphism | p.ARG328GLN | N/A | Swiss-Prot | VAR_022562 | Disease | p.ARG1236HIS | Fanconi anemia complementation group D2 (FANCD2) | Swiss-Prot | VAR_022560 | Disease | p.ARG302TRP | Fanconi anemia complementation group D2 (FANCD2) | Swiss-Prot | VAR_025829 | Polymorphism | p.GLN65HIS | N/A | Swiss-Prot | VAR_025835 | Polymorphism | p.GLN623PRO | N/A | dbSNP | rs35495399 | Polymorphism | p.GLY901VAL | N/A | Swiss-Prot | VAR_025830 | Polymorphism | p.ILE172MET | N/A | dbSNP | rs35782247 | Polymorphism | p.LEU456ARG | N/A | dbSNP | rs34557223 | Polymorphism | p.LEU446VAL | N/A | Swiss-Prot | VAR_025827 | Polymorphism | p.LYS33ARG | N/A | dbSNP | rs35546777 | Polymorphism | p.LYS865ARG | N/A | dbSNP | rs3864017 | Polymorphism | p.PRO714LEU | N/A | Swiss-Prot | VAR_022559 | Disease | p.SER126GLY | Fanconi anemia complementation group D2 (FANCD2) | Swiss-Prot | VAR_025831 | Polymorphism | p.THR193ALA | N/A | Swiss-Prot | VAR_025828 | Polymorphism | p.THR61MET | N/A | OMIM | 613984.0001 | Disease | p.ARG1236HIS | FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | OMIM | 613984.0003 | Disease | p.ARG302TRP | FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | OMIM | 613984.0004 | Disease | p.GLN320TER | FANCONI ANEMIA, COMPLEMENTATION GROUP D2 |
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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