Gene Variant Detail

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Gene GNAQ
Variant R183C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions 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).
Associated Drug Resistance

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Transcript NM_002072
gDNA chr9:g.77797576_77797578delTCGinsACA
cDNA c.547_549delCGAinsTGT
Protein p.R183C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002072 chr9:g.77797576_77797578delTCGinsACA c.547_549delCGAinsTGT p.R183C RefSeq GRCh38/hg38

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  • 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 Protein Effect Treatment Approaches
GNAQ R183C loss of function MEK inhibitor (Pan) PKC beta Inhibitor PKC Inhibitor (Pan)
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References