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 | E67K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CTNNB1 E67K does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). E67K confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 and association with CCND1 overexpression (PMID: 11592102). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 E67K |
Transcript | NM_001904.4 |
gDNA | chr3:g.41224711G>A |
cDNA | c.199G>A |
Protein | p.E67K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |