Known Diseases associated with this Protein: |  BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME (BIBAS)
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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_054373 | Disease | p.GLY236ARG | Birk-Barel mental retardation dysmorphism syndrome (BIBAS) |
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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13431426
KCNK9_HUMAN RecName: Full=Potassium channel subfamily K member 9; AltName: Full=Acid-sensitive potassium channel protein TASK-3; AltName: Full=TWIK-related acid-sensitive K(+) channel 3; AltName: Full=Two pore potassium channel KT3.2; Short=Two pore K(+) channel KT3.2
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