Gene Detail

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).
Entrez Id 2776
Chromosome 9
Map Location 9q21.2
Canonical Transcript NM_002072

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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).
D205G missense unknown GNAQ D205G lies within a GTP binding region 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, Jan 2019).
Q209H missense unknown GNAQ Q209H lies within the GTPase domain of the Gnaq protein (PMID: 19936769). Q209H 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, Oct 2018).
G64V missense unknown GNAQ G64V does not lie within any known functional domains 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, Jan 2019).
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.
inact mut unknown loss of function GNAQ inact mut indicates that this variant results in a loss of function of the Gnaq protein. However, the specific amino acid change has not been identified.
K72E missense unknown GNAQ K72E does not lie within any known functional domains 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, Jan 2019).
M59L missense unknown GNAQ M59L does not lie within any known functional domains of the Gnaq protein (UniProt.org). M59Lhas been identified in the scientific literature (PMID: 29191620), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
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.
Q209Y missense unknown GNAQ Q209Y lies within a GTP binding region of the Gnaq protein (UniProt.org). 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, Oct 2018).
R214K missense unknown GNAQ R214K does not lie within any known functional domains of the Gnaq protein (UniProt.org). R214K has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
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.
E212_R213insERC insertion unknown GNAQ E212_R213insERC results in the insertion of three amino acids in 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, Jan 2019).
L135V missense unknown GNAQ L135V does not lie within any known functional domains 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, Jan 2019).
P139R missense unknown GNAQ P139R does not lie within any known functional domains 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, Jan 2019).
S268L missense unknown GNAQ S268L does not lie within any known functional domains of the Gnaq protein (UniProt.org). S268L has been identified in sequencing stuides (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 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.
V167I missense unknown GNAQ V167I does not lie within any known functional domains 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, Jan 2019).
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.
S286F missense unknown GNAQ S286F does not lie within any known functional domains of the Gnaq protein (UniProt.org). S286F has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
Q209K missense unknown GNAQ Q209K lies within a GTP binding region of the Gnaq protein (UniProt.org). 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, Oct 2018).
R183X missense unknown GNAQ R183X indicates any amino acid change at position 183 within a GTP binding region of the Gnaq protein (UniProt.org).
R183C missense loss of function GNAQ R183C lies within the GTP binding region 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).
L164F missense unknown GNAQ L164F does not lie within any known functional domains 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, Jan 2019).
D319N missense unknown GNAQ D319N does not lie within any known functional domains of the Gnaq protein (UniProt.org). D319N has not been characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
R183Q missense loss of function GNAQ R183Q lies within the GTP binding region of the Gnaq protein (UniProt.org). R183Q confers a loss of function on Gnaq as indicated by activation of Erk and Yap signaling in culture (PMID: 23640210, PMID: 24882516, PMID: 23656586).
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: 24755471), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
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.
D146H missense unknown GNAQ D146H does not lie within any known functional domains of the Gnaq protein (UniProt.org). D146H has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
Q209R missense unknown GNAQ Q209R lies within the GTPase domain of the Gnaq protein (PMID: 19936769). Q209R has been identified in sequencing studies (PMID: 19654573) but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Oct 2018).
R247Q missense unknown GNAQ R247Q does not lie within any known functional domains of the Gnaq protein (UniProt.org). R247Q has not been characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
K133N missense unknown GNAQ K133N does not lie within any known functional domains 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, Jan 2019).
K345N missense unknown GNAQ K345N does not lie within any known functional domains of the Gnaq protein (UniProt.org). K345N has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
R247L missense unknown GNAQ R247L does not lie within any known functional domains 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, Jan 2019).
N106I missense unknown GNAQ N106I does not lie within any known functional domains 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, Aug 2018).
Q209X missense unknown GNAQ R209X indicates any amino acid change at position 209 within a GTP binding region of the Gnaq protein (UniProt.org).
I226V missense unknown GNAQ I226V does not lie within any known functional domains of the Gnaq protein (UniProt.org). I226L has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
P185S missense unknown GNAQ P185S lies within a GTP binding region 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, Jan 2019).
K311T missense unknown GNAQ K311T does not lie within any known functional domains of the Gnaq protein (UniProt.org). K311T has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
T96S missense unknown GNAQ T96S does not lie within any known functional domains of the Gnaq protein (UniProt.org). T96S has been identified in sequencing studies (PMID: 25855536, PMID: 26343386, PMID: 26286987), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
S122F missense unknown GNAQ S122F does not lie within any known functional domains 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, Jan 2019).
wild-type none no effect Wild-type GNAQ indicates that no mutation has been detected within the GNAQ gene.
E249K missense unknown GNAQ E249K does not lie within any known functional domains of the Gnaq protein (UniProt.org). E249K has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
I217L missense unknown GNAQ I217L does not lie within any known functional domains of the Gnaq protein (UniProt.org). I217L has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
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.
Q209P missense unknown GNAQ Q209P lies within a GTP binding region of the Gnaq protein (UniProt.org). The functional effect of Q209P is conflicting as it results in increased Erk phosphorylation but demonstrates similar effects on cell proliferation and apoptosis as wild-type Gnaq in culture (PMID: 23904987).
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 in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
T54M missense unknown GNAQ T54M does not lie within any known functional domains of the Gnaq protein (UniProt.org). T54M has been identified in sequencing studies (PMID: 28179590), it has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
mutant unknown unknown GNAQ mutant indicates an unspecified mutation in the GNAQ gene.
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.
D290N missense unknown GNAQ D290N does not lie within any known functional domains of the Gnaq protein (UniProt.org). D290N has not been characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
D205N missense unknown GNAQ D205N lies within a GTP binding region 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, Jan 2019).
D333Afs*39 missense unknown GNAQ D333Afs*39 indicates a shift in the reading frame starting at amino acid 333 and terminating 39 residues downstream causing a premature truncation of the 359 amino acid Gnaq protein (UniProt.org). D333Afs*39 has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
K276E missense unknown GNAQ K276E lies within a GTP binding region of the Gnaq protein (UniProt.org). K276E has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
Y356C missense unknown GNAQ Y356C does not lie within any known functional domains of the Gnaq protein (UniProt.org). Y356C has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
S211L missense unknown GNAQ S211L does not lie within any known functional domains 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, Jan 2019).
G64A missense unknown GNAQ G64A does not lie within any known functional domains 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, Jan 2019).
G48V missense unknown GNAQ G48V does not lie within any known functional domains of the Gnaq protein (UniProt.org). G48V has been identified in sequencing studies (PMID: 28594900), but has not been biochemically characterized and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
D315N missense unknown GNAQ D315N does not lie within any known functional domains 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, Jan 2019).
D71Y missense unknown GNAQ D71Y does not lie within any known functional domains of the Gnaq protein (UniProt.org). D71Y has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
R181T missense unknown GNAQ R181T lies within a GTP binding region 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, Jan 2019).
R166H missense unknown GNAQ R166H does not lie within any known functional domains of the Gnaq protein (UniProt.org). R166H has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
R300K missense unknown GNAQ R300K does not lie within any known functional domains of the Gnaq protein (UniProt.org). R300K has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
Y325F missense unknown GNAQ Y325F does not lie within any known functional domains of the Gnaq protein (UniProt.org). Y325F has not been characterized in the scientific literature and therefore, its effect on Gnaq protein function is unknown (PubMed, Jan 2019).
T329M missense unknown GNAQ T329M does not lie within any known functional domains 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, Jan 2019).
A302G missense unknown GNAQ A302G does not lie within any known functional domains 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, Jan 2019).
R338H missense unknown GNAQ R338H does not lie within any known functional domains 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, Jan 2019).
Molecular Profile Protein Effect Treatment Approaches
GNAQ Q209L PTEN R173S
GNAQ Q209L loss of function MEK inhibitor (Pan) PKC beta Inhibitor PKC Inhibitor (Pan) Verteporfin
GNAQ D205G unknown
GNAQ Q209H unknown
GNAQ G64V unknown
GNAQ G48* loss of function - predicted
GNAQ inact mut loss of function MEK inhibitor (Pan) PKC beta Inhibitor PKC Inhibitor (Pan) Verteporfin
GNAQ K72E unknown
GNAQ M59L unknown
GNAQ D205fs loss of function - predicted
GNAQ Q209Y unknown
GNAQ R214K unknown
GNAQ Y80* loss of function - predicted
GNAQ E212_R213insERC unknown
GNAQ L135V unknown
GNAQ P139R unknown
GNAQ S268L unknown
GNAQ R114* loss of function - predicted
GNAQ V167I unknown
GNAQ S50Wfs*19 loss of function - predicted
GNAQ S286F unknown
GNAQ Q209K unknown
GNAQ R183X unknown
GNAQ R183C loss of function MEK inhibitor (Pan) PKC beta Inhibitor PKC Inhibitor (Pan)
GNAQ L164F unknown
GNAQ D319N unknown
GNAQ R183Q loss of function MEK inhibitor (Pan) PKC beta Inhibitor PKC Inhibitor (Pan) Verteporfin
GNAQ R37H unknown
GNAQ Y101* loss of function - predicted
GNAQ D146H unknown
GNAQ Q209R unknown
GNAQ R247Q unknown
GNAQ K133N unknown
GNAQ K345N unknown
GNAQ R247L unknown
GNAQ N106I unknown
GNAQ Q209X unknown
GNAQ I226V unknown
GNAQ P185S unknown
GNAQ K311T unknown
GNAQ T96S unknown
GNAQ S122F unknown
GNAQ wild-type no effect
GNAQ E249K unknown
GNAQ I217L unknown
GNAQ R148* loss of function - predicted
GNAQ Q209P unknown
GNAQ E307* unknown
GNAQ T54M unknown
GNAQ mutant unknown
GNAQ R183* loss of function - predicted
GNAQ D290N unknown
GNAQ D205N unknown
GNAQ D333Afs*39 unknown
GNAQ K276E unknown
GNAQ Y356C unknown
GNAQ S211L unknown
GNAQ G64A unknown
GNAQ G48V unknown
GNAQ D315N unknown
GNAQ D71Y unknown
GNAQ R181T unknown
GNAQ R166H unknown
GNAQ R300K unknown
GNAQ Y325F unknown
GNAQ T329M unknown
GNAQ A302G unknown
GNAQ R338H unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
GNAQ Q209L PTEN R173S ocular melanoma predicted - sensitive Refametinib Phase I Actionable In a Phase I clinical trial, Refametinib (BAY 86-9766) demonstrated preliminary clinical activity in patients with several tumor types, including prolonged stable disease in an ocular melanoma patient harboring GNAQ Q209L and PTEN R173S (PMID: 23434733). 23434733
GNAQ Q209L uveal melanoma sensitive GSK2126458 + Trametinib Preclinical - Cell culture Actionable In a preclinical study, treatment with the combination of Mekinist (trametinib) and GSK2126458 induced apoptosis in uveal melanoma cell lines harboring GNAQ Q209L in culture (PMID: 22733540). 22733540
GNAQ Q209L uveal melanoma sensitive U0126 Preclinical - Cell culture Actionable In a preclinical study, treatment with U0126 resulted in reduced cell numbers in uveal melanoma cell lines harboring GNAQ Q209L in culture (PMID: 19078957). 19078957
GNAQ Q209L uveal melanoma sensitive NAV-2729 Preclinical - Cell line xenograft Actionable In a preclinical study, NAV-2729 inhibited signaling downstream of GNAQ Q209L in melanoma cells in culture, and inhibited initiation and growth of tumors in a uveal melanoma cell line xenograft model harboring GNAQ Q209L (PMID: 27265506). 27265506
GNAQ Q209L uveal melanoma sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, uveal melanoma cell lines harboring GNAQ Q209L demonstrated increased sensitivity to growth inhibition by Mekinist (trametinib) in culture, compared to cells with wild-type GNAQ (PMID: 22733540). 22733540
GNAQ Q209L uveal melanoma sensitive AEB071 Preclinical - Cell line xenograft Actionable In a preclinical study, human uveal melanoma cell lines harboring GNAQ Q209L demonstrated sensitivity to Sotrastaurin (AEB071) in culture, and Sotrastaurin (AEB071) decreased tumor growth in uveal melanoma cell line xenograft models harboring GNAQ Q209L (PMID: 24141786). 24141786
GNAQ Q209L uveal melanoma sensitive Verteporfin Preclinical - Cell line xenograft Actionable In a preclinical study, Visudyne (verteporfin) inhibited tumor formation in a uveal melanoma cell line xenograft model harboring GNAQ Q209L (PMID: 27308390). 27308390
GNAQ Q209L uveal melanoma sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Selumetinib (AZD6244) induced cell-cycle arrest and decreased viability of uveal melanoma cells harboring GNAQ Q209L in culture (PMID: 22550165). 22550165
GNAQ Q209L uveal melanoma sensitive Enzastaurin Preclinical - Cell culture Actionable In a preclinical study, Enzastaurin (LY317615) increased cell-cycle arrest and apoptosis and decreased viability of uveal melanoma cell lines harboring GNAQ Q209L in culture (PMID: 22253748). 22253748
GNAQ Q209L uveal melanoma sensitive AEB071 + PD-0325901 Preclinical - Cell culture Actionable In a preclinical study, Sotrastaurin (AEB071), in combination with PD-0325901, worked synergisitically to inhibit MAPK pathway activation and proliferation of a uveal melanoma cell line harboring GNAQ Q209L (PMID: 24141786). 24141786
GNAQ Q209L uveal melanoma sensitive TAK-733 Preclinical - Cell culture Actionable In a preclinical study, TAK-733 inhibited growth of a uveal melanoma cell line harboring GNAQ Q209L in culture (PMID: 22515704). 22515704
GNAQ Q209P uveal melanoma sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Selumetinib (AZD6244) induced cell-cycle arrest and decreased viability of uveal melanoma cells harboring GNAQ Q209P in culture (PMID: 22550165). 22550165
GNAQ Q209P uveal melanoma sensitive Enzastaurin Preclinical - Cell culture Actionable In a preclinical study, Enzastaurin (LY317615) increased cell-cycle arrest and apoptosis and decreased viability of a uveal melanoma cell line harboring GNAQ Q209P in culture (PMID: 22253748). 22253748
GNAQ Q209P uveal melanoma sensitive TAK-733 Preclinical - Cell culture Actionable In a preclinical study, TAK-733 inhibited growth of uveal melanoma cell lines harboring GNAQ Q209P in culture (PMID: 22515704). 22515704
GNAQ Q209P uveal melanoma sensitive AEB071 Preclinical - Cell culture Actionable In a preclinical study, Sotrastaurin (AEB071) induced cell-cycle arrest and apoptosis, and decreased viability of a uveal melanoma cell line harboring GNAQ Q209P in culture (PMID: 22653968). 22653968
GNAQ mutant uveal melanoma predicted - sensitive MEK162 + AEB071 Preclinical - Pdx & cell culture Actionable In a preclinical study, the combination of Binimetinib (MEK162) and Sotrastaurin (AEB071) inhibited tumor growth in patient-derived xenograft (PDX) models of uveal melanoma harboring GNAQ mutations, and inhibited growth of GNAQ-mutant uveal melanoma cell lines in culture (PMID: 27507190). 27507190
GNAQ mutant uveal melanoma predicted - sensitive AEB071 + Everolimus Preclinical - Pdx & cell culture Actionable In a preclinical study, treatment with the combination of Sotrastaurin (AEB071) and Afinitor (everolimus) inhibited tumor growth in patient-derived xenograft (PDX) models of uveal melanoma harboring GNAQ mutations, including tumor regression or stasis, and inhibited growth of GNAQ-mutant uveal melanoma cell lines in culture (PMID: 27507190). 27507190
GNAQ mutant uveal melanoma predicted - sensitive AEB071 + CGM097 Preclinical - Pdx & cell culture Actionable In a preclinical study, treatment with the combination of Sotrastaurin (AEB071) and CGM097 resulted in tumor regression or stasis in patient-derived xenograft (PDX) models of uveal melanoma harboring GNAQ mutations, and induced apoptosis and inhibited growth of GNAQ-mutant uveal melanoma cell lines in culture (PMID: 27507190). 27507190