Gene Variant Detail

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Gene CTNNB1
Variant P44L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CTNNB1 P44L does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44L is associated with nuclear accumulation of Ctnnb1 in the presence of a co-occurring K49E mutation in patient samples (PMID: 12474227), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown.
Associated Drug Resistance

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Transcript NM_001098210.1
gDNA chr3:g.41224643C>T
cDNA c.131C>T
Protein p.P44L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001098210.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001904 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CTNNB1 mutant desmoid tumor not applicable N/A Guideline Diagnostic CTNNB1 mutations aid the diagnosis of desmoid tumor (NCCN.org). detail...
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 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 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 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
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
Molecular Profile Protein Effect Treatment Approaches
CTNNB1 P44L unknown