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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, Feb 2022). |
Associated Drug Resistance |
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_001354905.1 | chr5:g.(112841528_112841529) | 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_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 |
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 |
APC N1819fs APC wild-type | colorectal cancer | resistant | XAV939 | 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 XAV939 in culture (PMID: 28179481). | 28179481 |
APC N1819fs APC wild-type | colorectal cancer | resistant | G007-LK | 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 G007-LK in culture (PMID: 28179481). | 28179481 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC N1819fs | unknown | |
APC N1819fs APC wild-type |