Gene Variant Detail

Gene CTNNB1
Variant T41A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 T41A lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). T41A confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 and increased Ctnnb1-dependent transcription (PMID: 10698519, PMID: 10487827, PMID: 12200448).
Associated Drug Resistance

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.

Transcript NM_001098210
gDNA chr3:g.41224633A>G
cDNA c.121A>G
Protein p.T41A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017005738 chr3:g.41224633A>G c.121A>G p.T41A RefSeq GRCh38/hg38
NM_001904 chr3:g.41224633A>G c.121A>G p.T41A RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224633A>G c.121A>G p.T41A RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224633A>G c.121A>G p.T41A RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224633A>G c.121A>G p.T41A RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224633A>G c.121A>G p.T41A 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
CTNNB1 T41A gain of function CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CTNNB1 T41A lung cancer predicted - sensitive NMS-P715 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A, demonstrated increased sensitivity to NMS-P715 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 T41A lung cancer predicted - sensitive BAY1217389 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A, demonstrated increased sensitivity to BAY1217389 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 T41A lung cancer predicted - sensitive Mps-BAY2b Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A, demonstrated increased sensitivity to Mps-BAY2b compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 T41A desmoid tumor sensitive Imatinib Clinical Study - Cohort Actionable In a retrospective analysis, patients with desmoid fibromatosis harboring CTNNB1 T41A demonstrated a greater progression arrest rate at 6 months (70%) compared to patients with CTNNB1 wild-type (45%) when treated with Gleevec (imatinib) (PMID: 26861905). 26861905
CTNNB1 T41A lung cancer predicted - sensitive BAY1161909 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A, demonstrated increased sensitivity to BAY1161909 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 T41A lung cancer predicted - sensitive MPI-0479605 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A demonstrated increased sensitivity to MPI-0479605 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540
CTNNB1 T41A lung cancer predicted - sensitive NTRC 0066-0 Preclinical - Cell line xenograft Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A, demonstrated increased sensitivity to NTRC 0066-0 compared to cell lines with wild-type CTNNB1, in culture and in xenograft models (PMID: 28751540). 28751540
CTNNB1 T41A lung cancer predicted - sensitive Mps1-IN-1 Preclinical - Cell culture Actionable In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A, demonstrated increased sensitivity to Mps1-IN-1 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). 28751540