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Known Diseases associated with this Protein: |  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (ARCI6)
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_031737 | Disease | p.ALA176ASP | Ichthyosis, congenital, autosomal recessive 6 (ARCI6) | | dbSNP | rs6860507 | Polymorphism | p.ARG213GLY | N/A | | Swiss-Prot | VAR_054120 | Disease | p.GLY230ARG | Ichthyosis, congenital, autosomal recessive 6 (ARCI6) | | Swiss-Prot | VAR_031740 | Disease | p.GLY297ARG | Ichthyosis, congenital, autosomal recessive 6 (ARCI6) | | Swiss-Prot | VAR_031736 | Disease | p.GLY142VAL | Ichthyosis, congenital, autosomal recessive 6 (ARCI6) | | Swiss-Prot | VAR_031739 | Disease | p.HIS237ASN | Ichthyosis, congenital, autosomal recessive 6 (ARCI6) | | dbSNP | rs61743233 | Polymorphism | p.SER453LEU | N/A | | Swiss-Prot | VAR_031738 | Disease | p.SER208PHE | Ichthyosis, congenital, autosomal recessive 6 (ARCI6) | | OMIM | 609383.0002 | Disease | p.ALA114ASN | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 | | OMIM | 609383.0003 | Disease | p.ALA176ASP | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 | | OMIM | 609383.0001 | Disease | p.ARG83TER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 |
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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221222524
NIPA4_HUMAN RecName: Full=Magnesium transporter NIPA4; AltName: Full=Ichthyin; AltName: Full=NIPA-like protein 4; AltName: Full=Non-imprinted in Prader-Willi/Angelman syndrome region protein 4
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