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Gene | CTNNB1 |
Variant | D32E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CTNNB1 D32E does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). D32E results in activation of Ctnnb1, as indicated by loss of membranous Ctnnb1 expression, increased nuclear Ctnnb1 expression, and increased TCF-1 and MITF-M expression in tumor samples (PMID: 14633602, PMID: 11950921). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 D32E |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224608C>G |
cDNA | c.96C>G |
Protein | p.D32E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |