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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 |
Transcript | NM_001098210.1 |
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 |
---|---|---|---|---|---|
XM_006712985 | 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_006712985.1 | chr3:g.41224619A>G | c.107A>G | p.H36R | RefSeq | GRCh38/hg38 |
NM_001098210.1 | 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_001098209.1 | 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_017005738 | 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 |
XM_005264886 | 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_017005738.1 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CTNNB1 H36R | gain of function | CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor |