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|Synonyms||AHO | C20orf45 | GNAS1 | GPSA | GSA | GSP | NESP | PITA3 | POH | SCG6 | SgVI|
|Gene Description||GNAS, GNAS complex locus, is a GTPase that is activated upon ligand binding of a G-protein coupled receptor, and is involved in mediating hormone response (PMID: 23640210, PMID: 25851935). Hotspot mutations impair Gnas GTPase activity, resulting in constitutive pathway activation and are common in a variety of tumor types (PMID: 23640210).|
|Molecular Profile||Protein Effect||Treatment Approaches|
|GNAS act mut||unknown|
|GNAS amp||no effect|
|EML4 - ALK GNAS amp|
|GNAS D173N||loss of function|
|GNAS inact mut||loss of function|
|GNAS Q227L||loss of function|
|GNAS Q227R||loss of function - predicted|
|GNAS R201C||loss of function|
|GNAS R201H||loss of function|
|GNAS R265H||loss of function|
|GNAS R6P||no effect - predicted|
|GNAS T225P||no effect - predicted|
|GNAS wild-type||no effect|