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 and Beta-catenin in culture but results in decreased Beta-catenin phosphorylation and ubiquitylation (PMID: 34352208) and loss of the 20-amino acid repeats of Apc involved in degradation of Beta-catenin and leads to TCF/LEF activity in culture (PMID: 28179481).
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC S811*

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Transcript NM_000038.5
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_001127510 chr5:g.112838026C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_000038 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_001127510.2 chr5:g.112838026C>A c.2432C>A p.S811* RefSeq GRCh38/hg38
NM_000038.5 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
APC S811* colorectal cancer sensitive G007-LK Preclinical - Cell culture Actionable In a preclinical study, treatment with G007-LK decreased active beta-catenin levels and Tcf/LEF activity, and reduced growth of a colorectal cancer cell line harboring APC S811* in culture (PMID: 28179481). 28179481
APC S811* colorectal cancer sensitive IWR-1 Preclinical - Cell culture Actionable In a preclinical study, treatment with IWR-1 decreased active beta-catenin levels and reduced growth of a colorectal cancer cell line harboring APC S811* in culture (PMID: 28179481). 28179481
APC S811* colorectal cancer sensitive XAV939 Preclinical - Cell culture Actionable In a preclinical study, XAV939 inhibited growth of a colorectal cancer cell line harboring APC S811* in culture (PMID: 28179481). 28179481
APC S811* colorectal cancer sensitive STP1002 Preclinical - Cell line xenograft Actionable In a preclinical study, STP1002 inhibited Wnt/beta-catenin signaling and colony formation in colorectal cancer cell lines harboring APC S811* in culture and inhibited tumor growth in a cell line xenograft model (PMID: 35849876). 35849876