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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_001098210.2
gDNA chr3:g.41233386G>A
cDNA c.1127G>A
Protein p.R376H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006712985.2 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_047447478.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41233386G>A c.1127G>A p.R376H RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
CTNNB1 R376H gain of function - predicted CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor