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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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510 | chr5:g.112840258_112840259insG | c.4664_4665insG | p.T1556Nfs*3 | RefSeq | GRCh38/hg38 |
NM_001354902.2 | chr5:g.112840534delC | c.4667delC | p.T1556Nfs*3 | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112840260dupA | c.4666dupA | p.T1556Nfs*3 | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112840260dupA | c.4666dupA | p.T1556Nfs*3 | RefSeq | GRCh38/hg38 |
NM_001354900.2 | chr5:g.112840383_112840384insACCCCTAA | c.4666_4667insACCCCTAA | p.T1556Nfs*3 | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112840260dupA | c.4666dupA | p.T1556Nfs*3 | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112840260dupA | c.4666dupA | p.T1556Nfs*3 | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112840258_112840259insG | c.4664_4665insG | p.T1556Nfs*3 | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112840260dupA | c.4666dupA | p.T1556Nfs*3 | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112840260dupA | c.4666dupA | p.T1556Nfs*3 | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112840260dupA | c.4666dupA | p.T1556Nfs*3 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC T1556Nfs*3 | loss of function | CTNNB1 Inhibitor Tankyrase Inhibitor |
APC E853* APC T1556Nfs*3 | ||
APC V830Gfs*12 APC T1556Nfs*3 | ||
APC S1465Wfs*3 APC T1556Nfs*3 |