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| Gene | APC |
| Variant | E1286G |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | APC E1286G lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1286G has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
APC mutant APC E1286G |
| Transcript | NM_000038.6 |
| gDNA | chr5:g.112839451A>G |
| cDNA | c.3857A>G |
| Protein | p.E1286G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407450.1 | chr5:g.112839451A>G | c.3857A>G | p.E1286G | RefSeq | GRCh38/hg38 |
| NM_001354895.2 | chr5:g.112839451A>G | c.3857A>G | p.E1286G | RefSeq | GRCh38/hg38 |
| NM_001354895.1 | chr5:g.112839451A>G | c.3857A>G | p.E1286G | RefSeq | GRCh38/hg38 |
| NM_001127510.3 | chr5:g.112839451A>G | c.3857A>G | p.E1286G | RefSeq | GRCh38/hg38 |
| NM_001354901.2 | chr5:g.112839628A>G | c.3857A>G | p.E1286G | RefSeq | GRCh38/hg38 |
| NM_001127510 | chr5:g.112839451A>G | c.3857A>G | p.E1286G | RefSeq | GRCh38/hg38 |
| NM_001354901.1 | chr5:g.112839628A>G | c.3857A>G | p.E1286G | RefSeq | GRCh38/hg38 |
| NM_001407453.1 | chr5:g.112839628A>G | c.3857A>G | p.E1286G | RefSeq | GRCh38/hg38 |
| NM_000038.6 | chr5:g.112839451A>G | c.3857A>G | p.E1286G | RefSeq | GRCh38/hg38 |
| NM_000038 | chr5:g.112839451A>G | c.3857A>G | p.E1286G | RefSeq | GRCh38/hg38 |
| NM_001127510.2 | chr5:g.112839451A>G | c.3857A>G | p.E1286G | RefSeq | GRCh38/hg38 |
| NM_000038.5 | chr5:g.112839451A>G | c.3857A>G | p.E1286G | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| APC E1286G | unknown |