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Known Diseases associated with this Protein: |  INTERSTITIAL NEPHRITIS, KARYOMEGALIC
| INTERSTITIAL NEPHRITIS, KARYOMEGALIC (KMIN)
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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_068961 | Disease | p.ASP960ASN | Interstitial nephritis, karyomegalic (KMIN) | | Swiss-Prot | VAR_068958 | Disease | p.CYS871ARG | Interstitial nephritis, karyomegalic (KMIN) | | Swiss-Prot | VAR_068959 | Disease | p.GLN929PRO | Interstitial nephritis, karyomegalic (KMIN) | | dbSNP | rs79759675 | Polymorphism | p.GLU437GLY | N/A | | Swiss-Prot | VAR_068960 | Disease | p.GLY937ASP | Interstitial nephritis, karyomegalic (KMIN) | | dbSNP | rs4779794 | Polymorphism | p.GLY233GLU | N/A | | OMIM | 613534.0004 | Disease | p.ARG749TER | INTERSTITIAL NEPHRITIS, KARYOMEGALIC | | OMIM | 613534.0008 | Disease | p.GLY937ARG | INTERSTITIAL NEPHRITIS, KARYOMEGALIC | | OMIM | 613534.0001 | Disease | p.TRP707TER | INTERSTITIAL NEPHRITIS, KARYOMEGALIC |
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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160410012
FAN1_HUMAN RecName: Full=Fanconi-associated nuclease 1; AltName: Full=FANCD2/FANCI-associated nuclease 1; AltName: Full=Myotubularin-related protein 15
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