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Gene | CTNNB1 |
Variant | T41I |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 T41I lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). T41I is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 10213482). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 T41I |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224634C>T |
cDNA | c.122C>T |
Protein | p.T41I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |