Gene Variant Detail

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Gene GNAQ
Variant Q209P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions 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.
Associated Drug Resistance

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Transcript NM_002072
gDNA chr9:g.77794572T>G
cDNA c.626A>C
Protein p.Q209P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002072 chr9:g.77794572T>G c.626A>C p.Q209P RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 FR900359 Preclinical - Cell culture Actionable In a preclinical study, FR900359 inhibited ERK activation and proliferation, and induced cell-cycle arrest, apoptosis and differentiation in a uveal melanoma cell line harboring GNAQ Q209P in culture (PMID: 30567972). 30567972
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 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
Molecular Profile Protein Effect Treatment Approaches
GNAQ Q209P loss of function - predicted