Gene Variant Detail

Gene APC
Variant A1475fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC A1475fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1475 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1475fs has not been characterized, however, due to the effects of an Apc truncation at I1572 (PMID: 10346819), A1475fs 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.(112840016_112840017)
cDNA c.(4423_4422)
Protein p.A1475fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.(112840016_112840017) c.(4423_4422) p.A1475fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112840016_112840017) c.(4423_4422) p.A1475fs 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 A1475fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References