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CTNNB1 N387K - Gene Variant Detail

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Gene CTNNB1
Variant N387K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 N387K lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). N387K results in phosphorylation and protein stability similar to wild-type Ctnnb1 (PMID: 31857074), but increases Ctnnb1 transcriptional activity in cell culture (PMID: 27177928), increases Ctnnb1 signaling activity and downstream target gene expression in culture, and induces tumor growth in mouse models (PMID: 31857074).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut CTNNB1 N387K

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Transcript NM_001098210.2
gDNA chr3:g.41233420T>G
cDNA c.1161T>G
Protein p.N387K
Source Database RefSeq
Genome Build GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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