Gene Variant Detail

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Gene GNAQ
Variant D205fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions GNAQ D205fs results in a change in the amino acid sequence of the Gnaq protein beginning at aa 205 of 359, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of GTP binding regions (UniProt.org), D205fs is predicted to result in a loss of Gnaq protein function.
Associated Drug Resistance

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Transcript NM_002072
gDNA chr9:g.(77794585_77794586)
cDNA c.(613_612)
Protein p.D205fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002072 chr9:g.(77794585_77794586) c.(613_612) p.D205fs 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
GNAQ D205fs loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References