Gene Variant Detail

Gene APC
Variant K1817fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC K1817fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1817 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1817fs has not been characterized, however Apc truncation mutants downstream of K1817 are inactivating (PMID: 18199528) thus, K1817fs is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance

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Transcript NM_000038
gDNA chr5:g.(112841042_112841043)
cDNA c.(5449_5448)
Protein p.K1817fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.(112841042_112841043) c.(5449_5448) p.K1817fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112841042_112841043) c.(5449_5448) p.K1817fs 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
APC K1817fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References