Gene Detail

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Gene Symbol GNAQ
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).

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Molecular Profile Protein Effect Treatment Approaches
GNAQ A302G unknown
GNAQ act mut unknown
GNAQ D146H unknown
GNAQ D205fs loss of function - predicted
GNAQ D205G unknown
GNAQ D205N unknown
GNAQ D290N unknown
GNAQ D315N unknown
GNAQ D319N unknown
GNAQ D333Afs*39 unknown
GNAQ D71Y unknown
GNAQ E212_R213insERC unknown
GNAQ E249K unknown
GNAQ E307* unknown
GNAQ exon5 unknown
GNAQ G48* loss of function - predicted
GNAQ G48V unknown
GNAQ G64A unknown
GNAQ G64V unknown
GNAQ I217L unknown
GNAQ I226V unknown
GNAQ inact mut loss of function MEK inhibitor (Pan) PKC beta Inhibitor PKC Inhibitor (Pan) Verteporfin
GNAQ K133N unknown
GNAQ K276E unknown
GNAQ K311T unknown
GNAQ K345N unknown
GNAQ K72E unknown
GNAQ L135V unknown
GNAQ L164F unknown
GNAQ M59L unknown
GNAQ mutant unknown
GNAQ N106I unknown
GNAQ P139R unknown
GNAQ P185S unknown
GNAQ Q209H unknown
GNAQ Q209K unknown
GNAQ Q209L loss of function MEK inhibitor (Pan) PKC beta Inhibitor PKC Inhibitor (Pan) Verteporfin
GNAQ Q209P loss of function - predicted
GNAQ Q209R unknown
GNAQ Q209X unknown
GNAQ Q209Y unknown
GNAQ R114* loss of function - predicted
GNAQ R148* loss of function - predicted
GNAQ R166H unknown
GNAQ R181T unknown
GNAQ R183* loss of function - predicted
GNAQ R183C loss of function MEK inhibitor (Pan) PKC beta Inhibitor PKC Inhibitor (Pan)
GNAQ R183G unknown
GNAQ R183Q loss of function MEK inhibitor (Pan) PKC beta Inhibitor PKC Inhibitor (Pan) Verteporfin
GNAQ R183X unknown
GNAQ R214K unknown
GNAQ R247L unknown
GNAQ R247Q unknown
GNAQ R300K unknown
GNAQ R338H unknown
GNAQ R37H unknown
GNAQ S122F unknown
GNAQ S211L unknown
GNAQ S268L unknown
GNAQ S286F unknown
GNAQ S50Wfs*19 loss of function - predicted
GNAQ T329M unknown
GNAQ T54M unknown
GNAQ T96S loss of function
GNAQ V167I unknown
GNAQ wild-type no effect
GNAQ Y101* loss of function - predicted
GNAQ Y325F unknown
GNAQ Y356C unknown
GNAQ Y80* loss of function - predicted