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Gene | CTNNB1 |
Variant | S33P |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 S33P lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). S33P is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 11731417). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 S33P |
Transcript | NM_001904.4 |
gDNA | chr3:g.41224609T>C |
cDNA | c.97T>C |
Protein | p.S33P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |