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Gene | CTNNB1 |
Variant | S45F |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CTNNB1 S45F lies within a Gsk3b phosphorylation site on the Ctnnb1 protein (UniProt.org). S45F confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 and increased Ctnnb1-dependent transcription (PMID: 18282277). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 S45F |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224646C>T |
cDNA | c.134C>T |
Protein | p.S45F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |