Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | APC |
| Variant | H1013D |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | APC H1013D lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). H1013D has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
APC mutant APC H1013D |
| Transcript | NM_000038.6 |
| gDNA | chr5:g.112838631C>G |
| cDNA | c.3037C>G |
| Protein | p.H1013D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001354895.2 | chr5:g.112838631C>G | c.3037C>G | p.H1013D | RefSeq | GRCh38/hg38 |
| NM_001407450.1 | chr5:g.112838631C>G | c.3037C>G | p.H1013D | RefSeq | GRCh38/hg38 |
| NM_000038.6 | chr5:g.112838631C>G | c.3037C>G | p.H1013D | RefSeq | GRCh38/hg38 |
| NM_001354900.2 | chr5:g.112838754C>G | c.3037C>G | p.H1013D | RefSeq | GRCh38/hg38 |
| NM_001127510.3 | chr5:g.112838631C>G | c.3037C>G | p.H1013D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|