Known Diseases associated with this Protein: |  CONE-ROD DYSTROPHY 11 (CORD11)
| MACULAR DEGENERATION, AGE-RELATED, 6 (ARMD6)
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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_031907 | Disease | p.ARG87GLN | Macular degeneration, age-related, 6 (ARMD6) | | Swiss-Prot | VAR_031908 | Disease | p.GLY137ARG | Cone-rod dystrophy 11 (CORD11) |
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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74760880
RAX2_HUMAN RecName: Full=Retina and anterior neural fold homeobox protein 2; AltName: Full=Q50-type retinal homeobox protein; AltName: Full=Retina and anterior neural fold homeobox-like protein 1
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