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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).
NCBI Gene ID Chromosome Map Location Canonical Transcript
2776 9 9q21.2 NM_002072

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A302G missense unknown GNAQ A302G lies within the G-alpha domain of the Gnaq protein (UniProt.org). A302G has been identified in the scientific literature (PMID: 24755198), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
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).
D146H missense unknown GNAQ D146H lies within the G-alpha domain of the Gnaq protein (UniProt.org). D146H has not been characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
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.
D205G missense unknown GNAQ D205G lies within the G-alpha domain of the Gnaq protein (UniProt.org). D205G has been identified in sequencing studies (PMID: 25583476), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
D205N missense unknown GNAQ D205N lies within the G-alpha domain of the Gnaq protein (UniProt.org). D205N has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
D290N missense unknown GNAQ D290N lies within the G-alpha domain of the Gnaq protein (UniProt.org). D290N has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
D315N missense unknown GNAQ D315N lies within the G-alpha domain of the Gnaq protein (UniProt.org). D315N has been identified in sequencing studies (PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
D319N missense unknown GNAQ D319N lies within the G-alpha domain of the Gnaq protein (UniProt.org). D319N has been identified in sequencing studies (PMID: 27756406, PMID: 26010451), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
D333Afs*39 frameshift unknown GNAQ D333Afs*39 indicates a shift in the reading frame starting at amino acid 333 and terminating 39 residues downstream, resulting in premature truncation of the functional protein and extension of the 359aa Gnaq protein length by 13 amino acids (UniProt.org). D333Afs*39 has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Oct 2019).
D71Y missense unknown GNAQ D71Y lies within the G-alpha domain of the Gnaq protein (UniProt.org). D71Y has not been characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Sep 2019).
E212_R213insERC insertion unknown GNAQ E212_R213insERC results in the insertion of three amino acids in the G-alpha domain of the Gnaq protein between amino acids 212 and 213 (UniProt.org). E212_R213insERC has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Sep 2019).
E249K missense unknown GNAQ E249K lies within the G-alpha domain of the Gnaq protein (UniProt.org). E249K has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
E307* nonsense unknown GNAQ E307* results in a premature truncation of the Gnaq protein at amino acid 307 of 359 (UniProt.org). E307* has not been characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
exon5 unknown unknown GNAQ exon 5 indicates an unspecified mutation has occurred in exon 5 of the GNAQ gene.
G48* nonsense loss of function - predicted GNAQ G48* results in a premature truncation of the Gnaq protein at amino acid 48 of 359 (UniProt.org). Due to the loss of the GTP binding regions (UniProt.org), G48* is predicted to lead to a loss of Gnaq protein function.
G48V missense unknown GNAQ G48V lies within the G-alpha domain of the Gnaq protein (UniProt.org). G48V has been identified in the scientific literature (PMID: 31189994, PMID: 28594900), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
G64A missense unknown GNAQ G64A lies within the G-alpha domain of the Gnaq protein (UniProt.org). G64A has been identified in sequencing studies (PMID: 24504448), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
G64V missense unknown GNAQ G64V lies within the G-alpha domain of the Gnaq protein (UniProt.org). G64V has been identified in sequencing studies (PMID: 23640210), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
I217L missense unknown GNAQ I217L lies within the G-alpha domain of the Gnaq protein (UniProt.org). I217L has been identified in sequencing studies (PMID: 26010451), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
I226V missense unknown GNAQ I226V lies within the G-alpha domain of the Gnaq protein (UniProt.org). I226L has not been characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
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.
K133N missense unknown GNAQ K133N lies within the G-alpha domain of the Gnaq protein (UniProt.org). K133N has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
K276E missense unknown GNAQ K276E lies within the G-alpha domain of the Gnaq protein (UniProt.org). K276E has not been characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
K311T missense unknown GNAQ K311T lies within the G-alpha domain of the Gnaq protein (UniProt.org). K311T has not been characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
K345N missense unknown GNAQ K345N lies within the G-alpha domain of the Gnaq protein (UniProt.org). K345N has not been characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
K72E missense unknown GNAQ K72E lies within the G-alpha domain of the Gnaq protein (UniProt.org). K72E has been identified in sequencing studies (PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
L135V missense unknown GNAQ L135V lies within the G-alpha domain of the Gnaq protein (UniProt.org). L135V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
L164F missense unknown GNAQ L164F lies within the G-alpha domain of the Gnaq protein (UniProt.org). L164F has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
M59L missense unknown GNAQ M59L lies within the G-alpha domain of the Gnaq protein (UniProt.org). M59L has been identified in the scientific literature (PMID: 29191620, PMID: 30787173), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
mutant unknown unknown GNAQ mutant indicates an unspecified mutation in the GNAQ gene.
N106I missense unknown GNAQ N106I lies within the G-alpha domain of the Gnaq protein (UniProt.org). N106I has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
P139R missense unknown GNAQ P139R lies within the G-alpha domain of the Gnaq protein (UniProt.org). P139R has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
P185S missense unknown GNAQ P185S lies within the G-alpha domain of the Gnaq protein (UniProt.org). P185S has been identified in sequencing studies (PMID: 24755198), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
Q209H missense unknown GNAQ Q209H is a hotspot mutation that lies within the GTPase domain of the Gnaq protein (PMID: 19936769). Q209H has been identified in sequencing studies (PMID: 30601876), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Oct 2019).
Q209K missense unknown GNAQ Q209K is a hotspot mutation that lies within the GTPase domain of the Gnaq protein (PMID: 19936769). Q209K has been identified in the scientific literature (PMID: 23640210), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Nov 2019).
Q209L missense loss of function GNAQ Q209L is a hotspot mutation that lies within the GTPase domain of the Gnaq protein (PMID: 19936769). Q209L confers a loss of function on Gnaq protein as indicated by activation of Erk signaling, transformation of cultured cells, and increased tumor growth in mouse models (PMID: 1328859, PMID: 19078957, PMID: 21083380).
Q209P missense loss of function - predicted GNAQ Q209P lies within the G-alpha domain of the Gnaq protein (UniProt.org). Q209P results in similar effects on cell proliferation and apoptosis as wild-type Gnaq in culture (PMID: 23904987), however, results in increased Erk phosphorylation (PMID: 23904987, PMID: 30352874), decreased binding to effector proteins, G-protein beta gamma, and signaling proteins, and diminished GTPase activity (PMID: 30352874), and therefore, is predicted to result in a loss of Gnaq protein function.
Q209R missense unknown GNAQ Q209R is a hotspot mutation that lies within the GTPase domain of the Gnaq protein (PMID: 19936769). Q209R has been identified in sequencing studies (PMID: 19654573, PMID: 31336681), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Oct 2019).
Q209X missense unknown GNAQ Q209X indicates any amino acid change at position 209 within a GTP-binding region of the Gnaq protein (UniProt.org).
Q209Y missense unknown GNAQ Q209Y is a hotspot mutation that lies within the GTPase domain of the Gnaq protein (PMID: 19936769). Q209Y has been identified in the scientific literature (PMID: 23640210), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Nov 2019).
R114* nonsense loss of function - predicted GNAQ R114* results in a premature truncation of the Gnaq protein at amino acid 114 of 359 (UniProt.org). Due to the loss of the majority of the GTP binding regions (UniProt.org), R114* is predicted to lead to a loss of Gnaq protein function.
R148* nonsense loss of function - predicted GNAQ R148* results in a premature truncation of the Gnaq protein at amino acid 148 of 359 (UniProt.org). Due to the loss of the majority of the GTP binding regions (UniProt.org), R148* is predicted to lead to a loss of Gnaq protein function.
R166H missense unknown GNAQ R166H lies within the G-alpha domain of the Gnaq protein (UniProt.org). R166H has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
R181T missense unknown GNAQ R181T lies within the G-alpha domain of the Gnaq protein (UniProt.org). R181T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
R183* nonsense loss of function - predicted GNAQ R183* results in a premature truncation of the Gnaq protein at amino acid 183 of 359 (UniProt.org). Due to the loss of the majority of the GTP binding regions (UniProt.org), R183* is predicted to lead to a loss of Gnaq protein function.
R183C missense loss of function GNAQ R183C lies within the G-alpha domain of the Gnaq protein (UniProt.org). R183C results in decreased GTP hydrolysis rate of Gnaq, leading to constitutive gene transcription in a reporter assay in cell culture (PMID: 10391901, PMID: 15339913).
R183G missense unknown GNAQ R183G lies within the G-alpha domain of the Gnaq protein (UniProt.org). R183G has been identified in the scientific literature (PMID: 30601876), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
R183Q missense loss of function GNAQ R183Q lies within the G-alpha domain of the Gnaq protein (UniProt.org). R183Q confers a loss of function on Gnaq as indicated by the activation of Erk and Yap signaling in culture (PMID: 23640210, PMID: 24882516, PMID: 23656586).
R183X missense unknown GNAQ R183X indicates any amino acid change at position 183 within a GTP-binding region of the Gnaq protein (UniProt.org).
R214K missense unknown GNAQ R214K lies within the G-alpha domain of the Gnaq protein (UniProt.org). R214K has been identified in the scientific literature (PMID: 23434405), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
R247L missense unknown GNAQ R247L lies within the G-alpha domain of the Gnaq protein (UniProt.org). R247L has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
R247Q missense unknown GNAQ R247Q lies within the G-alpha domain of the Gnaq protein (UniProt.org). R247Q has been identified in sequencing studies (PMID: 27756406, PMID: 26010451), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Sep 2019).
R300K missense unknown GNAQ R300K lies within the G-alpha domain of the Gnaq protein (UniProt.org). R300K has not been characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
R338H missense unknown GNAQ R338H lies within the G-alpha domain of the Gnaq protein (UniProt.org). R338H has been identified in sequencing studies (PMID: 25790293), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
R37H missense unknown GNAQ R37H does not lie within any known functional domains of the Gnaq protein (UniProt.org). R37H has been identified in sequencing studies (PMID: 29420467, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Sep 2019).
S122F missense unknown GNAQ S122F lies within the G-alpha domain of the Gnaq protein (UniProt.org). S122F has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
S211L missense unknown GNAQ S211L lies within the G-alpha domain of the Gnaq protein (UniProt.org). S211L has been identified in sequencing studies (PMID: 24755198), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
S268L missense unknown GNAQ S268L lies within the G-alpha domain of the Gnaq protein (UniProt.org). S268L has been identified in sequencing studies (PMID: 30057548, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
S286F missense unknown GNAQ S286F lies within the G-alpha domain of the Gnaq protein (UniProt.org). S286F has been identified in sequencing studies (PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
S50Wfs*19 frameshift loss of function - predicted GNAQ S50Wfs*19 indicates a shift in the reading frame starting at amino acid 50 and terminating 19 residues downstream causing a premature truncation of the 359 amino acid Gnaq protein (UniProt.org). Due to the loss of the GTP binding regions (UniProt.org), S50Wfs*19 is predicted to lead to a loss of Gnaq protein function.
T329M missense unknown GNAQ T329M lies within the G-alpha domain of the Gnaq protein (UniProt.org). T329M has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
T54M missense unknown GNAQ T54M lies within the G-alpha domain of the Gnaq protein (UniProt.org). T54M has been identified in sequencing studies (PMID: 30239046, PMID: 28179590), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
T96S missense loss of function GNAQ T96S lies within the G-alpha domain of the Gnaq protein (UniProt.org). T96S confers a loss of function as it results in promotion of tumor growth in mouse models, increased binding to G-protein beta gamma, and increased phosphorylation of Erk and Akt compared to wild-type Gnaq in vitro (PMID: 31527657).
V167I missense unknown GNAQ V167I lies within the G-alpha domain of the Gnaq protein (UniProt.org). V167I has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
wild-type none no effect Wild-type GNAQ indicates that no mutation has been detected within the GNAQ gene.
Y101* nonsense loss of function - predicted GNAQ Y101* results in a premature truncation of the Gnaq protein at amino acid 101 of 359 (UniProt.org). Due to the loss of the majority of the GTP binding regions (UniProt.org), Y101* is predicted to lead to a loss of Gnaq protein function.
Y325F missense unknown GNAQ Y325F lies within the G-alpha domain of the Gnaq protein (UniProt.org). Y325F has been identified in sequencing studies (PMID: 21798893), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
Y356C missense unknown GNAQ Y356C lies within the G-alpha domain of the Gnaq protein (UniProt.org). Y356C has not been characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Feb 2020).
Y80* nonsense loss of function - predicted GNAQ Y80* results in a premature truncation of the Gnaq protein at amino acid 80 of 359 (Uniprot.org). Due to the loss of the majority of the GTP binding regions (UniProt.org), Y80* is predicted to lead to a loss of Gnaq protein function.