Gene Variant Detail

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Gene APC
Variant N1819fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions APC N1819fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1819 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N1819fs has been identified in the scientific literature (PMID: 28179481), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
Associated Drug Resistance
Category Variants Paths

APC mutant APC N1819fs

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Transcript NM_000038.5
gDNA chr5:g.(112841048_112841049)
cDNA c.(5455_5454)
Protein p.N1819fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.(112841048_112841049) c.(5455_5454) p.N1819fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112841048_112841049) c.(5455_5454) p.N1819fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112841048_112841049) c.(5455_5454) p.N1819fs RefSeq GRCh38/hg38
NM_001354905.1 chr5:g.(112841528_112841529) c.(5455_5454) p.N1819fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112841048_112841049) c.(5455_5454) p.N1819fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112841048_112841049) c.(5455_5454) p.N1819fs 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
APC N1819fs colorectal cancer resistant IWR-1 Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC N1819fs (reported as N1819fs*7) and a wild-type copy of APC demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with IWR-1 in culture (PMID: 28179481). 28179481