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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 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC N1819fs |
Transcript | NM_000038.6 |
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_001127510 | chr5:g.(112841048_112841049) | c.(5455_5454) | p.N1819fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112841048_112841049) | c.(5455_5454) | p.N1819fs | RefSeq | GRCh38/hg38 |
NM_001407452.1 | chr5:g.(112841078_112841079) | 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_001354905.2 | chr5:g.(112841528_112841529) | c.(5455_5454) | p.N1819fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112841048_112841049) | c.(5455_5454) | p.N1819fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112841048_112841049) | c.(5455_5454) | p.N1819fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | 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 |
NM_001407450.1 | 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 |
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 |