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Gene | CTNNB1 |
Variant | D162E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CTNNB1 D162E lies within ARM repeat 1 of the Ctnnb1 protein (UniProt.org). D162E has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jun 2025). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 D162E |
Transcript | NM_001904.4 |
gDNA | chr3:g.41225198C>G |
cDNA | c.486C>G |
Protein | p.D162E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |