Gene Variant Detail

Gene APC
Variant E1309Afs*3
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions APC E1309Afs*3 indicates a shift in the reading frame starting at amino acid 1309 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). E1309Afs*3 results in a loss of function reducing the ability of Apc to properly regulate beta-catenin (PMID: 10213492, PMID: 17189293).
Associated Drug Resistance

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Transcript NM_000038
gDNA chr5:g.112839519_112839520insCCCCAT
cDNA c.3925_3926insCCCCAT
Protein p.E1309Afs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.112839519_112839520insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 RefSeq GRCh38/hg38
NM_000038 chr5:g.112839519_112839520insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 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 E1309Afs*3 loss of function CTNNB1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References