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Gene | CTNNB1 |
Variant | G38P |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 G38P lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38P is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 17163846). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 G38P |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224624_41224625delGGinsCC |
cDNA | c.112_113delGGinsCC |
Protein | p.G38P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |