Known Diseases associated with this Protein: |  NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
| NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR (NSLH)
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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_060199 | Disease | p.SER2GLY | Noonan syndrome-like disorder with loose anagen hair (NSLH) | | OMIM | 602775.0001 | Disease | p.SER2GLY | NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR |
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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14423936
SHOC2_HUMAN RecName: Full=Leucine-rich repeat protein SHOC-2; AltName: Full=Protein soc-2 homolog; AltName: Full=Protein sur-8 homolog
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