Gene Detail

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Gene Symbol GNAS
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).

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Molecular Profile Protein Effect Treatment Approaches
GNAS act mut unknown
GNAS amp no effect
EML4 - ALK GNAS amp
GNAS D173N loss of function
GNAS G801R unknown
GNAS inact mut loss of function
GNAS K338R unknown
GNAS mutant unknown
GNAS Q227E unknown
GNAS Q227H unknown
GNAS Q227K unknown
GNAS Q227L loss of function
GNAS Q227R loss of function - predicted
GNAS Q227X unknown
GNAS R201C loss of function
GNAS R201G unknown
GNAS R201H loss of function
GNAS R201L unknown
GNAS R201S unknown
GNAS R265H loss of function
GNAS R6P no effect - predicted
GNAS T225P no effect - predicted
GNAS wild-type no effect