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Gene | APC |
Variant | K1817fs |
Impact List | frameshift |
Protein Effect | unknown |
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 in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC K1817fs |
Transcript | NM_000038.6 |
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_001354895.1 | chr5:g.(112841042_112841043) | c.(5449_5448) | p.K1817fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112841042_112841043) | c.(5449_5448) | p.K1817fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112841042_112841043) | c.(5449_5448) | p.K1817fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112841042_112841043) | c.(5449_5448) | p.K1817fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112841042_112841043) | c.(5449_5448) | p.K1817fs | RefSeq | GRCh38/hg38 |
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 |
NM_001354895.2 | chr5:g.(112841042_112841043) | c.(5449_5448) | p.K1817fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112841042_112841043) | c.(5449_5448) | p.K1817fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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