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 H36R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 H36R does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). H36R results in pH-insensitive binding to the E3 ubiquitin protein ligase, Btrc, and increased Btrc binding in the presence of unphosphorylated Ctnnb1 in an in vitro assay, and the corresponding drosophila variant (H42R) leads to tumor formation in drosophila eyes and results in increased Wnt activity in a reporter assay (PMID: 30315137).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut CTNNB1 H36R

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.41224619A>G
cDNA c.107A>G
Protein p.H36R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001098210.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_047447478.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001904 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41224619A>G c.107A>G p.H36R RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41224619A>G c.107A>G p.H36R 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 act mut hepatocellular carcinoma decreased response unspecified CTLA4 antibody + unspecified PD-1 antibody Clinical Study - Cohort Actionable In a clinical study, treatment with immune checkpoint antibodies, including anti-PD-1, anti-PD-L1, or anti-CTLA-4 monotherapy or combinations of anti-PD-1 with anti-CTLA-4, anti-LAG3, or anti-KIR, was less effective in hepatocellular carcinoma patients with Wnt pathway mutations in CTNNB1 or AXIN1 compared to patients without Wnt pathway mutations, with 0% (0/10) vs. 53% (9/17) achieving disease control, respectively, and shorter progression-free survival (2.0 mo vs. 7.4 mo) (PMID: 30373752; NCT01775072). 30373752
CTNNB1 act mut Advanced Solid Tumor predicted - sensitive CC-91516 Preclinical - Patient cell culture Actionable In a preclinical study, CC-91516 treatment induced apoptosis and inhibited viability of cancer cells harboring CTNNB1 activating mutations, and inhibited ex vivo colony formation from patient-derived xenograft (PDX) models in culture (Cancer Res 2022;82(12_Suppl):Abstract nr 1180). detail...
CTNNB1 act mut 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
CTNNB1 act mut hepatocellular carcinoma sensitive WNTinib Preclinical Actionable In a preclinical study, WNTinib increased survival in a mouse model of CTNNB1-driven hepatocellular carcinoma (PMID: 37537299). 37537299
CTNNB1 act mut desmoid tumor sensitive Imatinib Clinical Study - Cohort Actionable In a retrospective analysis, patients with desmoid fibromatosis harboring CTNNB1 activating exon 3 mutations demonstrated a greater progression arrest rate at 6 months compared to patients with CTNNB1 wild-type tumor when treated with Gleevec (imatinib) (PMID: 26861905). 26861905
CTNNB1 act mut hepatocellular carcinoma decreased response unspecified PD-1 antibody Clinical Study - Cohort Actionable n a clinical study, treatment with immune checkpoint antibodies, including anti-PD-1, anti-PD-L1, or anti-CTLA-4 monotherapy or combinations of anti-PD-1 with anti-CTLA-4, anti-LAG3, or anti-KIR, was less effective in hepatocellular carcinoma patients with Wnt pathway mutations in CTNNB1 or AXIN1 compared to patients without Wnt pathway mutations, with 0% (0/10) vs. 53% (9/17) achieving disease control, respectively, and shorter progression-free survival (2.0 mo vs. 7.4 mo) (PMID: 30373752; NCT01775072). 30373752
CTNNB1 act mut hepatocellular carcinoma decreased response unspecified PD-L1 antibody Clinical Study - Cohort Actionable In a clinical study, treatment with immune checkpoint antibodies, including anti-PD-1, anti-PD-L1, or anti-CTLA-4 monotherapy or combinations of anti-PD-1 with anti-CTLA-4, anti-LAG3, or anti-KIR, was less effective in hepatocellular carcinoma patients with Wnt pathway mutations in CTNNB1 or AXIN1 compared to patients without Wnt pathway mutations, with 0% (0/10) vs. 53% (9/17) achieving disease control, respectively, and shorter progression-free survival (2.0 mo vs. 7.4 mo) (PMID: 30373752; NCT01775072). 30373752
CTNNB1 act mut hepatocellular carcinoma decreased response unspecified CTLA4 antibody Clinical Study - Cohort Actionable In a clinical study, treatment with immune checkpoint antibodies, including anti-PD-1, anti-PD-L1, or anti-CTLA-4 monotherapy or combinations of anti-PD-1 with anti-CTLA-4, anti-LAG3, or anti-KIR, was less effective in hepatocellular carcinoma patients with Wnt pathway mutations in CTNNB1 or AXIN1 compared to patients without Wnt pathway mutations, with 0% (0/10) vs. 53% (9/17) achieving disease control, respectively, and shorter progression-free survival (2.0 mo vs. 7.4 mo) (PMID: 30373752; NCT01775072). 30373752
CTNNB1 mutant medulloblastoma not applicable N/A Guideline Prognostic WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org). detail...
CTNNB1 mutant desmoid tumor not applicable N/A Guideline Diagnostic CTNNB1 mutations aid the diagnosis of desmoid tumor (NCCN.org). detail...
CTNNB1 mutant endometrial cancer predicted - sensitive Cabozantinib Case Reports/Case Series Actionable In a Phase II (NCI9322/PHL86) trial, Cometriq (Cabometyx, cabozantinib) treatment resulted in a response rate of 40% (4/10) and a 12-week progression-free survival rate of 70% (7/10) in patients with endometrial cancer harboring CTNNB1 mutations, with a median PFS of 7.6 months (PMID: 31992589; NCT01935934). 31992589
CTNNB1 mutant hepatocellular carcinoma predicted - sensitive WNTinib Preclinical - Cell culture Actionable In a preclinical study, WNTinib inhibited Ezh2 phosphorylation and viability in a hepatocellular carcinoma cell line harboring a deletion of CTNNB1 exons in culture (PMID: 37537299). 37537299
CTNNB1 mutant endometrial cancer predicted - sensitive Temsirolimus Phase II Actionable In a retrospective study of a Phase II trial, Torisel (temsirolimus) treatment resulted in an increased progression-free survival (HR 0.46) but not response rate (response difference 0.00) in advanced endometrial cancer patients harboring CTNNB1 mutations (PMID: 27016228). 27016228
CTNNB1 mutant colorectal cancer sensitive BC21 Preclinical Actionable In a preclinical study, BC21 inhibited growth and viability of a colorectal cancer cell line with a CTNNB1 mutation and increased beta-catenin expression in culture (PMID: 22224445). 22224445
CTNNB1 mutant hepatocellular carcinoma sensitive PMED-1 Preclinical Actionable In a preclinical study, PMED-1 decreased Wnt expression and decreased proliferation of hepatocellular carcinoma cells with Ctnnb1 mutations (PMID: 24819961). 24819961