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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).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|Q227X||missense||unknown||GNAS Q227X (corresponding to Q870X in isoform XLas-1) indicates any Gnas missense mutation that results in replacement of the glutamine (Q) at amino acid 227 by a different amino acid.|
|act mut||unknown||unknown||GNAS act mut indicates that the variant results in activation of GNAS downstream signaling. The mechanism causing the activation can include either loss of GTP hydrolysis activity (loss of function) or increased nucleotide exchange rate (gain of function).|
|inact mut||unknown||loss of function||GNAS inact mut indicates that the variant results in failure to activate GNAS downstream signaling. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||GNAS mutant indicates an unspecified mutation in the GNAS gene.|