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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, May 2025). |
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 |