Gene Variant Detail

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Gene GNAQ
Variant D71Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions GNAQ D71Y lies within the G-alpha domain 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, Apr 2020).
Associated Drug Resistance

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Transcript NM_002072
gDNA chr9:g.77922271C>A
cDNA c.211G>T
Protein p.D71Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002072 chr9:g.77922271C>A c.211G>T p.D71Y 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 )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • 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 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
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
Molecular Profile Protein Effect Treatment Approaches
GNAQ D71Y unknown