Gene Variant Detail

Gene APC
Variant R1399Ffs*9
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC R1399Ffs*9 indicates a shift in the reading frame starting at amino acid 1399 and terminating 9 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). R1399Ffs*9 has not been characterized, however Apc truncation mutants downstream of R1399 are inactivating (PMID: 18199528), thus, R1399Ffs*9 is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance

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Transcript NM_000038
gDNA chr5:g.112839789_112839790delCG
cDNA c.4195_4196delCG
Protein p.R1399Ffs*9
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.112839789_112839790delCG c.4195_4196delCG p.R1399Ffs*9 RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839789_112839790delCG c.4195_4196delCG p.R1399Ffs*9 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 R1399Ffs*9 loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References