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Gene | CTNNB1 |
Variant | I35S |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 I35S lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). I35S is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 18282277). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 I35S |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224616T>G |
cDNA | c.104T>G |
Protein | p.I35S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |