Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene CTNNB1
Variant T41I
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions CTNNB1 T41I lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). T41I is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 10213482).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut CTNNB1 T41I

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "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.

Transcript NM_001098210.2
gDNA chr3:g.41224634C>T
cDNA c.122C>T
Protein p.T41I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047447478.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
NM_001904 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41224634C>T c.122C>T p.T41I RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "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 T41I 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