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Gene GNAQ
Variant T96S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions GNAQ T96S lies within the G-alpha domain of the Gnaq protein (UniProt.org). T96S confers a loss of function to the Gnaq protein as demonstrated by increased binding to G-protein beta gamma in cell culture, elevated Erk and Akt phosphorylation in cultured cells and xenograft tumors, and increased tumor growth in mouse models compared to wild-type Gnaq (PMID: 31527657).
Associated Drug Resistance

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Transcript NM_002072
gDNA chr9:g.77922196T>A
cDNA c.286A>T
Protein p.T96S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002072 chr9:g.77922196T>A c.286A>T p.T96S RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
GNAQ mutant uveal cancer no benefit Trametinib Phase I Actionable In a Phase I trial, Mekinist (trametinib) treatment resulted in stable disease as best response in 50% (3/6) of patients with uveal melanoma harboring GNAQ or GNA11 mutations (PMID: 22805292; NCT00687622). 22805292
GNAQ mutant uveal melanoma predicted - sensitive Binimetinib + Sotrastaurin 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 Everolimus + Sotrastaurin 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 no benefit Dacarbazine + Selumetinib Phase III Actionable In a Phase III trial (SUMIT), Koselugo (selumetinib) in combination with Deticene (dacarbazine) did not significantly improve progression-free survival (2.8 vs 1.8 months, HR=0.78, p=0.32) or overall survival (HR=0.75, p=0.40) in patients with metastatic uveal melanoma, 94% (73/78) of analyzed patients harbored mutually exclusive GNAQ or GNA11 mutations (PMID: 29528792; NCT01974752). 29528792
GNAQ mutant uveal melanoma predicted - sensitive CGM097 + Sotrastaurin 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
Molecular Profile Protein Effect Treatment Approaches
GNAQ T96S loss of function