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| Gene | APC |
| Variant | N1026S |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | APC N1026S lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). N1026S confers a loss of function on Apc, as indicated by diminished binding to Ctnnb1 and moderate activation of target genes in cell culture (PMID: 18166348). |
| Associated Drug Resistance | |
| Category Variants Paths |
APC mutant APC inact mut APC N1026S |
| Transcript | NM_000038.6 |
| gDNA | chr5:g.112838671A>G |
| cDNA | c.3077A>G |
| Protein | p.N1026S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000038 | chr5:g.112838671A>G | c.3077A>G | p.N1026S | RefSeq | GRCh38/hg38 |
| NM_001127510.2 | chr5:g.112838671A>G | c.3077A>G | p.N1026S | RefSeq | GRCh38/hg38 |
| NM_001354895.1 | chr5:g.112838671A>G | c.3077A>G | p.N1026S | RefSeq | GRCh38/hg38 |
| NM_001127510.3 | chr5:g.112838671A>G | c.3077A>G | p.N1026S | RefSeq | GRCh38/hg38 |
| NM_001354895.2 | chr5:g.112838671A>G | c.3077A>G | p.N1026S | RefSeq | GRCh38/hg38 |
| NM_001407450.1 | chr5:g.112838671A>G | c.3077A>G | p.N1026S | RefSeq | GRCh38/hg38 |
| NM_000038.5 | chr5:g.112838671A>G | c.3077A>G | p.N1026S | RefSeq | GRCh38/hg38 |
| NM_001127510 | chr5:g.112838671A>G | c.3077A>G | p.N1026S | RefSeq | GRCh38/hg38 |
| NM_000038.6 | chr5:g.112838671A>G | c.3077A>G | p.N1026S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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