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Known Diseases associated with this Protein: |  HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (HDR)
| HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME
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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_033025 | Polymorphism | p.ARG366LEU | N/A | | Swiss-Prot | VAR_019202 | Polymorphism | p.GLY242SER | N/A | | Swiss-Prot | VAR_017818 | Disease | p.TRP274ARG | Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) | | OMIM | 131320.0012 | Disease | p.ARG352SER | HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME | | OMIM | 131320.0005 | Disease | p.ARG276TER | HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME | | OMIM | 131320.0008 | Disease | p.ARG366TER | HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME | | OMIM | 131320.0014 | Disease | p.CYS341TYR | HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME | | OMIM | 131320.0006 | Disease | p.TRP274ARG | HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME |
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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120962
GATA3_HUMAN RecName: Full=Trans-acting T-cell-specific transcription factor GATA-3; AltName: Full=GATA-binding factor 3
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