Gene Variant Detail

Gene APC
Variant E1309Dfs*4
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC E1309Dfs*4 indicates a shift in the reading frame starting at amino acid 1309 and terminating 4 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). E1309Dfs*4 has not been characterized, but can be predicted to lead to a loss of Apc protein function based on the effects of a similar frameshift mutation at E1309 (PMID: 10213492, PMID: 17189293).
Associated Drug Resistance

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Transcript NM_000038
gDNA chr5:g.112839520_112839521insTTTCCCTT
cDNA c.3926_3927insTTTCCCTT
Protein p.E1309Dfs*4
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.112839520_112839521insTTTCCCTT c.3926_3927insTTTCCCTT p.E1309Dfs*4 RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839520_112839521insTTTCCCTT c.3926_3927insTTTCCCTT p.E1309Dfs*4 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"

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Molecular Profile Protein Effect Treatment Approaches
APC E1309Dfs*4 loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References