Gene Variant Detail

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Gene CTNNB1
Variant G34V
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions CTNNB1 G34V lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). G34V is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 9671767).
Associated Drug Resistance

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Transcript NM_001098210
gDNA chr3:g.41224613G>T
cDNA c.101G>T
Protein p.G34V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005264886 chr3:g.41224613G>T c.101G>T p.G34V RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224613G>T c.101G>T p.G34V RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224613G>T c.101G>T p.G34V RefSeq GRCh38/hg38
NM_001904 chr3:g.41224613G>T c.101G>T p.G34V RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224613G>T c.101G>T p.G34V RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224613G>T c.101G>T p.G34V 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CTNNB1 G34V lung non-small cell carcinoma predicted - resistant Osimertinib Case Reports/Case Series Actionable In a retrospective analysis, activating CTNNB1 mutations including S37F/C (n=5), D32V (n=1), G34V (n=1), and T41I (n=1) were identified in 8 of 100 patients with non-small cell lung cancer at treatment discontinuation of Tagrisso (osimertinib) (PMID: 31839416). 31839416
Molecular Profile Protein Effect Treatment Approaches
CTNNB1 G34V gain of function - predicted CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor