Known Diseases associated with this Protein: |  DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 (DKCB2)
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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_065870 | Polymorphism | p.ALA118THR | N/A | | Swiss-Prot | VAR_065872 | Disease | p.TYR139HIS | Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) | | Swiss-Prot | VAR_065871 | Disease | p.VAL126MET | Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) |
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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68565945
NHP2_HUMAN RecName: Full=H/ACA ribonucleoprotein complex subunit 2; AltName: Full=Nucleolar protein family A member 2; AltName: Full=snoRNP protein NHP2
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