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|Synonyms||CMC1 | G-ALPHA-q | GAQ | SWS|
|Gene Description||GNAQ, G protein subunit alpha q, is a guanine-binding protein (G protein) subunit, which is activated following ligand binding to G-protein coupled receptors and functions in cell signaling (PMID: 27148356). GNAQ hotspot mutations impair intrinsic GTPase activity, resulting in constitutive pathway activation and are common in uveal melanoma (PMID: 23640210, PMID: 27148356) and have also been identified in nonuveal melanoma (PMID: 32064597), anastomosing hemangioma (PMID: 31707589), natural killer/T cell lymphoma (PMID: 31527657), and circumscribed choroidal hemangioma (PMID: 31336681).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|Q209X||missense||unknown||GNAQ Q209X indicates any amino acid change at position 209 within a GTP-binding region of the Gnaq protein (UniProt.org).|
|R183X||missense||unknown||GNAQ R183X indicates any amino acid change at position 183 within a GTP-binding region of the Gnaq protein (UniProt.org).|
|act mut||unknown||unknown||GNAQ act mut indicates that the variant results in activation of GNAQ downstream signaling. The mechanism causing the activation can include either loss of GTP hydrolysis activity (LOF) or increased nucleotide exchange rate (GOF).|
|exon5||unknown||unknown||GNAQ exon 5 indicates an unspecified mutation has occurred in exon 5 of the GNAQ gene.|
|inact mut||unknown||loss of function||GNAQ inact mut indicates that this variant results in failure to activate GNAQ downstream signaling. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||GNAQ mutant indicates an unspecified mutation in the GNAQ gene.|
|D205fs||frameshift||loss of function - predicted||GNAQ D205fs results in a change in the amino acid sequence of the Gnaq protein beginning at aa 205 of 359, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of GTP binding regions (UniProt.org), D205fs is predicted to result in a loss of Gnaq protein function.|