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Gene | CTNNB1 |
Variant | P44_S45del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 P44_S45del results in the deletion of two amino acids of the Ctnnb1 protein from amino acids 44 to 45 (UniProt.org). P44_S45del is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 19863445). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 P44_S45del |
Transcript | NM_001904.4 |
gDNA | chr3:g.41224643_41224648delCTTCTC |
cDNA | c.131_136delCTTCTC |
Protein | p.P44_S45delPS |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |