Gene Variant Detail

Gene APC
Variant L1488Ffs*26
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC L1488Ffs*26 indicates a shift in the reading frame starting at amino acid 1488 and terminating 26 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L1488Ffs*26 has not been characterized, however, due to the effects of an Apc truncation at I1572 (PMID: 10346819), L1488Ffs*26 is predicted to reduce the ability of Apc to regulate beta-catenin.
Associated Drug Resistance

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Transcript NM_000038
gDNA chr5:g.112840057dupT
cDNA c.4463dupT
Protein p.L1488Ffs*26
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.112840057dupT c.4463dupT p.L1488Ffs*26 RefSeq GRCh38/hg38
NM_000038 chr5:g.112840057dupT c.4463dupT p.L1488Ffs*26 RefSeq GRCh38/hg38
NM_001127511 chr5:g.(112840110_112840190) c.(4462_4542) p.L1488Ffs*26 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 L1488Ffs*26 loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References