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CTNNB1 S33F - Gene Variant Detail

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Gene CTNNB1
Variant S33F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 S33F lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). S33F confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 10597262, PMID: 10213482), increased protein expression in patient cells (PMID: 27543871), and increased activity in a reporter assay (PMID: 31857074).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut CTNNB1 S33F

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Transcript NM_001098210.2
gDNA chr3:g.41224610C>T
cDNA c.98C>T
Protein p.S33F
Source Database RefSeq
Genome Build GRCh38/hg38

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