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Gene | CTNNB1 |
Variant | P44A |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 P44A does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44A is predicted to confer a gain of function to the Ctnnb1 protein, as demonstrated by increased Ctnnb1-dependent transcription in a reporter assay (PMID: 18282277). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 P44A |
Transcript | NM_001904.4 |
gDNA | chr3:g.41224642C>G |
cDNA | c.130C>G |
Protein | p.P44A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |