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Gene | CTNNB1 |
Variant | P44L |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CTNNB1 P44L does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44L confers a gain of function to Ctnnb1 as it results in decreased serine phosphorylation of Ctnnb1 in cell culture and increased transcriptional activity in a reporter assay compared to wild-type Ctnnb1 (PMID: 31970420). |
Associated Drug Resistance |
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 |
---|---|---|---|---|---|
XM_024453358.1 | 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_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 |
NM_001098209 | 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 |
NM_001904 | 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 |
XM_024453356.1 | 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_006712985 | 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_001098209.1 | chr3:g.41224643C>T | c.131C>T | p.P44L | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41224643C>T | c.131C>T | p.P44L | 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 P44L | gain of function | CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor |