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Known Diseases associated with this Protein: |  DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 (DKCB3)
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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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| dbSNP | rs7640 | Polymorphism | p.ALA522GLY | N/A | | dbSNP | rs2287499 | Polymorphism | p.ARG68GLY | N/A | | Swiss-Prot | VAR_065875 | Disease | p.ARG398TRP | Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) | | Swiss-Prot | VAR_057619 | Polymorphism | p.ASN187THR | N/A | | dbSNP | rs35123152 | Polymorphism | p.GLU494GLN | N/A | | Swiss-Prot | VAR_065876 | Disease | p.GLY435ARG | Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) | | Swiss-Prot | VAR_065874 | Disease | p.HIS376TYR | Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) | | Swiss-Prot | VAR_065873 | Disease | p.PHE164LEU | Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) | | Swiss-Prot | VAR_057618 | Polymorphism | p.PRO136ARG | N/A | | dbSNP | rs17880282 | Polymorphism | p.PRO11SER | N/A | | OMIM | 612661.0002 | Disease | p.ARG398TRP | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 | | OMIM | 612661.0004 | Disease | p.GLY435ARG | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 | | OMIM | 612661.0003 | Disease | p.HIS376TYR | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 | | OMIM | 612661.0001 | Disease | p.PHE164LEU | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 |
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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74761275
WAP53_HUMAN RecName: Full=Telomerase Cajal body protein 1; AltName: Full=WD repeat-containing protein 79; AltName: Full=WD40 repeat-containing protein encoding RNA antisense to p53
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