Gene Variant Detail

Gene APC
Variant W553*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC W553* results in a premature truncation of the Apc protein at amino acid 553 of 2843 (UniProt.org). Due to disruption of the Armadillo domain and loss of the beta-catenin binding and down-regulation domains (PMID: 19573802), W553* is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance

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Transcript NM_000038
gDNA chr5:g.112828887G>A
cDNA c.1658G>A
Protein p.W553*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.112828887G>A c.1658G>A p.W553* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112828887G>A c.1658G>A p.W553* 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 W553* 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 W553* colorectal cancer sensitive IWR-1 Preclinical - Cell culture Actionable In a preclinical study, IWR-1 inhibited growth of a patient-derived colorectal cancer cell line harboring APC W553* in culture (PMID: 28179481). 28179481
APC W553* colorectal cancer sensitive G007-LK Preclinical - Cell culture Actionable In a preclinical study, G007-LK inhibited growth of a patient-derived colorectal cancer cell line harboring APC W553* in culture (PMID: 28179481). 28179481