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Gene | APC |
Variant | T1556Nfs*3 |
Impact List | frameshift |
Protein Effect | loss of function |
Gene Variant Descriptions | APC T1556Nfs*3 indicates a shift in the reading frame starting at amino acid 1556 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T1556Nfs*3 retains binding with Axin1 but confers a loss of function to Apc as demonstrated by decreased beta-catenin recruitment, phosphorylation, and ubiquitination in cultured cells (PMID: 34352208). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC T1556fs APC T1556Nfs*3 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112840260dupA |
cDNA | c.4666dupA |
Protein | p.T1556Nfs*3 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |