Known Diseases associated with this Protein: |  THYROTROPIN-RELEASING HORMONE RESISTANCE, GENERALIZED
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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_011857 | Polymorphism | p.ASN10LYS | N/A | | Swiss-Prot | VAR_049450 | Polymorphism | p.ILE168MET | N/A | | dbSNP | rs5774 | Polymorphism | p.SER10ARG | N/A | | OMIM | 188545.0002 188545.0003 | Disease | p.ARG17TER | THYROTROPIN-RELEASING HORMONE RESISTANCE, GENERALIZED |
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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464921
TRFR_HUMAN RecName: Full=Thyrotropin-releasing hormone receptor; Short=TRH-R; AltName: Full=Thyroliberin receptor
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