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Gene | CTNNB1 |
Variant | W383R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CTNNB1 W383R lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). W383R confers a gain of function to the Ctnnb1 protein as indicated by increased transcriptional activity in reporter assays (PMID: 15579438, PMID: 31857074). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 W383R |
Transcript | NM_001904.4 |
gDNA | chr3:g.41233406T>A |
cDNA | c.1147T>A |
Protein | p.W383R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |