CTNNB1 R376H
Gene Variant Detail

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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

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Transcript NM_001904.4
gDNA chr3:g.41233386G>A
cDNA c.1127G>A
Protein p.R376H
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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