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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).|