Known Diseases associated with this Protein: |  FANCONI ANEMIA, COMPLEMENTATION GROUP B
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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 | rs41309679 | Polymorphism | p.GLY335GLU | N/A | | Swiss-Prot | VAR_069426 | Polymorphism | p.ILE330THR | N/A | | OMIM | 300515.0006 | Disease | p.LEU717TER | FANCONI ANEMIA, COMPLEMENTATION GROUP B |
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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74751163
FANCB_HUMAN RecName: Full=Fanconi anemia group B protein; Short=Protein FACB; AltName: Full=Fanconi anemia-associated polypeptide of 95 kDa; Short=FAAP95
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