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Gene | CTNNB1 |
Variant | R376H |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 R376H lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). R376H retains binding to E-Cadherin and Tcf7l2, but results in a loss of binding to Apc in cultured cells, and leads to increased transcriptional activity in a reporter assay (PMID: 31857074), and therefore, is predicted to lead to a gain of Ctnnb1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 R376H |
Transcript | NM_001904.4 |
gDNA | chr3:g.41233386G>A |
cDNA | c.1127G>A |
Protein | p.R376H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |