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Gene | CTNNB1 |
Variant | W25_D32del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 W25_D32del results in the deletion of eight amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 25 to 32 (PMID: 15064718). W25_D32del is predicted to confer a gain of function to the Ctnnb1 protein, as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 11309340, PMID: 10698519). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 W25_D32del |
Transcript | NM_001904.4 |
gDNA | chr3:g.41224586_41224609del24 |
cDNA | c.74_97del24 |
Protein | p.W25_D32delWQQQSYLD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |