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Gene | CTNNB1 |
Variant | A39G |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 A39G does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A39G is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 12067995). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 A39G |
Transcript | NM_001904.4 |
gDNA | chr3:g.41224628C>G |
cDNA | c.116C>G |
Protein | p.A39G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |