APC S811*
Gene Variant Detail

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Gene APC
Variant S811*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions APC S811* results in a premature truncation of the Apc protein at amino acid 811 of 2843 (UniProt.org). S811* retains binding with Axin1 but confers a loss of function to Apc as demonstrated by decreased beta-catenin recruitment, phosphorylation, and ubiquitination in culture (PMID: 34352208), and activation of Wnt signaling in reporter assays (PMID: 28179481).
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC S811*

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Transcript NM_000038.6
gDNA chr5:g.112838026C>A
cDNA c.2432C>A
Protein p.S811*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.5 chr5:g.112838026C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_001354898.2 chr5:g.112838101C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112838026C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_001407467.1 chr5:g.112838413C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_000038 chr5:g.112838026C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112838026C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112838026C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_001407469.1 chr5:g.112838413C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112838026C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112838026C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112838026C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_001354898.1 chr5:g.112838101C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112838026C>A c.2432C>A p.S811* RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries