Gene Variant Detail

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Gene GNAQ
Variant R183Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions GNAQ R183Q lies within the G-alpha domain of the Gnaq protein (UniProt.org). R183Q confers a loss of function on Gnaq as indicated by the activation of Erk and Yap signaling in culture (PMID: 23640210, PMID: 24882516, PMID: 23656586).
Associated Drug Resistance

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Transcript NM_002072
gDNA chr9:g.77797577C>T
cDNA c.548G>A
Protein p.R183Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002072 chr9:g.77797577C>T c.548G>A p.R183Q 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 Protein Effect Treatment Approaches
GNAQ R183Q loss of function MEK inhibitor (Pan) PKC beta Inhibitor PKC Inhibitor (Pan) Verteporfin
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References