Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | CTNNB1 |
Variant | A43P |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 A43P does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A43P is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 11148558). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 A43P |
Transcript | NM_001904.4 |
gDNA | chr3:g.41224639G>C |
cDNA | c.127G>C |
Protein | p.A43P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |