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| Gene | APC |
| Variant | Y737* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | APC Y737* results in a premature truncation of the Apc protein at amino acid 737 of 2843 (UniProt.org). Y737* has not been characterized, however, due to the effects of other truncation mutations downstream of Y737 (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 Y737* |
| Transcript | NM_000038.6 |
| gDNA | chr5:g.112837805C>A |
| cDNA | c.2211C>A |
| Protein | p.Y737* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001127510 | chr5:g.112837805C>A | c.2211C>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_000038.6 | chr5:g.112837805C>A | c.2211C>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_001354904.2 | chr5:g.112838183C>A | c.2211C>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_001354904.1 | chr5:g.112838183C>A | c.2211C>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_001354901.1 | chr5:g.112837982T>A | c.2211T>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_001407453.1 | chr5:g.112837982T>A | c.2211T>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_001354895.2 | chr5:g.112837805C>A | c.2211C>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_001127510.2 | chr5:g.112837805C>A | c.2211C>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_001354895.1 | chr5:g.112837805C>A | c.2211C>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_000038 | chr5:g.112837805C>A | c.2211C>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_001354901.2 | chr5:g.112837982T>A | c.2211T>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_000038.5 | chr5:g.112837805C>A | c.2211C>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_001127510.3 | chr5:g.112837805C>A | c.2211C>A | p.Y737* | RefSeq | GRCh38/hg38 |
| NM_001407450.1 | chr5:g.112837805C>A | c.2211C>A | p.Y737* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| APC Y737* | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |