Gene Variant Detail

Gene APC
Variant S1197*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC S1197* results in a premature truncation of the Apc protein at amino acid 1197 of 2843 (UniProt.org). Due to the loss of the 20-amino acid repeats involved in beta-catenin degradation (PMID: 28179481), S1197* is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance

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

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Transcript NM_001127511
gDNA chr5:g.112839237_112839239delAGTinsTGA
cDNA c.3589_3591delAGTinsTGA
Protein p.S1197*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127511 chr5:g.112839237_112839239delAGTinsTGA c.3589_3591delAGTinsTGA p.S1197* 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

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
APC S1197* APC S1278*
APC S1197* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
APC S1197* APC S1278* 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 S1197* and APC S1278* in culture (PMID: 28179481). 28179481
APC S1197* APC S1278* colorectal cancer sensitive IWR-1 Preclinical - Cell culture Actionable In a preclinical study, treatment with IWR-1 decreased active beta-catenin levels and Tcf/LEF activity, and reduced growth of a colorectal cancer cell line harboring APC S1197* and APC S1278* in culture (PMID: 28179481). 28179481
APC S1197* APC S1278* colorectal cancer sensitive XAV939 Preclinical - Cell culture Actionable In a preclinical study, XAV939 inhibited growth of a colorectal cancer cell line harboring APC S1197* and APC S1278* in culture (PMID: 28179481). 28179481