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Gene | CTNNB1 |
Variant | K335I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CTNNB1 K335I lies within ARM repeat 5 of the Ctnnb1 protein (UniProt.org). K335I results in phosphorylation and protein stability similar to wild-type Ctnnb1 (PMID: 31857074), but is weakly activating as compared to wild-type Ctnnb1 in cultured cells (PMID: 24735922, PMID: 15579438), increases Ctnnb1 signaling activity and downstream target genes, and induces tumor growth in mouse models (PMID: 31857074). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 K335I |
Transcript | NM_001904.4 |
gDNA | chr3:g.41227275A>T |
cDNA | c.1004A>T |
Protein | p.K335I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |