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| Gene | APC |
| Variant | G1416* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | APC G1416* results in a premature truncation of the Apc protein at amino acid 1416 of 2843 (UniProt.org). G1416* has not been characterized, however, due to the effects of other truncation mutations downstream of G1416 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
APC mutant APC inact mut APC G1416* |
| Transcript | NM_000038.6 |
| gDNA | chr5:g.112839840_112839842delGGCinsTGA |
| cDNA | c.4246_4248delGGCinsTGA |
| Protein | p.G1416* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407450.1 | chr5:g.112839840_112839842delGGCinsTGA | c.4246_4248delGGCinsTGA | p.G1416* | RefSeq | GRCh38/hg38 |
| NM_001127510.2 | chr5:g.112839840_112839842delGGCinsTGA | c.4246_4248delGGCinsTGA | p.G1416* | RefSeq | GRCh38/hg38 |
| NM_000038.5 | chr5:g.112839840_112839842delGGCinsTGA | c.4246_4248delGGCinsTGA | p.G1416* | RefSeq | GRCh38/hg38 |
| NM_001354895.1 | chr5:g.112839840_112839842delGGCinsTGA | c.4246_4248delGGCinsTGA | p.G1416* | RefSeq | GRCh38/hg38 |
| NM_001127510.3 | chr5:g.112839840_112839842delGGCinsTGA | c.4246_4248delGGCinsTGA | p.G1416* | RefSeq | GRCh38/hg38 |
| NM_001407455.1 | chr5:g.112840089G>T | c.4246G>T | p.G1416* | RefSeq | GRCh38/hg38 |
| NM_000038 | chr5:g.112839840_112839842delGGCinsTGA | c.4246_4248delGGCinsTGA | p.G1416* | RefSeq | GRCh38/hg38 |
| NM_001354895.2 | chr5:g.112839840_112839842delGGCinsTGA | c.4246_4248delGGCinsTGA | p.G1416* | RefSeq | GRCh38/hg38 |
| NM_000038.6 | chr5:g.112839840_112839842delGGCinsTGA | c.4246_4248delGGCinsTGA | p.G1416* | RefSeq | GRCh38/hg38 |
| NM_001407457.1 | chr5:g.112840089G>T | c.4246G>T | p.G1416* | RefSeq | GRCh38/hg38 |
| NM_001407456.1 | chr5:g.112840089G>T | c.4246G>T | p.G1416* | RefSeq | GRCh38/hg38 |
| NM_001127510 | chr5:g.112839840_112839842delGGCinsTGA | c.4246_4248delGGCinsTGA | p.G1416* | RefSeq | GRCh38/hg38 |
| NM_001407454.1 | chr5:g.112840089G>T | c.4246G>T | p.G1416* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| APC G1416* | colorectal cancer | sensitive | TASIN-1 | Preclinical - Cell culture | Actionable | In a preclinical study, TASIN-1 inhibited survival of colorectal cancer cell lines harboring APC G1416* in culture (PMID: 27798265). | 27798265 |