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Gene | CTNNB1 |
Variant | S45P |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CTNNB1 S45P lies within a Gsk3b phosphorylation site on the Ctnnb1 protein (UniProt.org). S45P confers a gain of function to the Ctnnb1 protein as demonstrated by stabilization of the Ctnnb1 protein and increased transcription of Ctnnb1 target genes (PMID: 9065403, PMID: 15133491). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 S45P |
Transcript | NM_001904.4 |
gDNA | chr3:g.41224645T>C |
cDNA | c.133T>C |
Protein | p.S45P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |