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Known Diseases associated with this Protein: |  RETT SYNDROME CONGENITAL VARIANT (RTTCV)
| RETT SYNDROME, CONGENITAL VARIANT
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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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| Swiss-Prot | VAR_064396 | Disease | p.ARG244CYS | Rett syndrome congenital variant (RTTCV) | | Swiss-Prot | VAR_063885 | Disease | p.PHE215LEU | Rett syndrome congenital variant (RTTCV) | | Swiss-Prot | VAR_064395 | Polymorphism | p.PRO109LEU | N/A | | OMIM | 164874.0004 | Disease | p.PHE215LEU | RETT SYNDROME, CONGENITAL VARIANT | | OMIM | 164874.0001 | Disease | p.TRP255TER | RETT SYNDROME, CONGENITAL VARIANT | | OMIM | 164874.0005 | Disease | p.TRP308TER | RETT SYNDROME, CONGENITAL VARIANT | | OMIM | 164874.0006 | Disease | p.TRP400TER | RETT SYNDROME, CONGENITAL VARIANT | | OMIM | 164874.0003 | Disease | p.TYR208TER | RETT SYNDROME, CONGENITAL VARIANT |
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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152031604
FOXG1_HUMAN RecName: Full=Forkhead box protein G1; AltName: Full=Brain factor 1; Short=BF-1; Short=BF1; AltName: Full=Brain factor 2; Short=BF-2; Short=BF2; Short=hBF-2; AltName: Full=Forkhead box protein G1A; AltName: Full=Forkhead box protein G1B; AltName: Full=Forkhead box protein G1C; AltName: Full=Forkhead-related protein FKHL1; Short=HFK1; AltName: Full=Forkhead-related protein FKHL2; Short=HFK2; AltName: Full=Forkhead-related protein FKHL3; Short=HFK3
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