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Gene | APC |
Variant | R805Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC R805Q does not lie within any known functional domains of the Apc protein (UniProt.org). R805Q has been identified in sequencing studies (PMID: 31320401), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC R805Q |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838008G>A |
cDNA | c.2414G>A |
Protein | p.R805Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510 | chr5:g.112838008G>A | c.2414G>A | p.R805Q | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112838008G>A | c.2414G>A | p.R805Q | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112838008G>A | c.2414G>A | p.R805Q | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112838008G>A | c.2414G>A | p.R805Q | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838008G>A | c.2414G>A | p.R805Q | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112838008G>A | c.2414G>A | p.R805Q | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838008G>A | c.2414G>A | p.R805Q | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112838008G>A | c.2414G>A | p.R805Q | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112838008G>A | c.2414G>A | p.R805Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
APC mutant | colorectal cancer | sensitive | JW74 | Preclinical | Actionable | In a preclinical study, JW74 reduced tumor formation and growth in a mouse model of colorectal cancer harboring an APC mutation (PMID: 21199802). | 21199802 |
APC mutant | small intestine adenocarcinoma | not applicable | N/A | Guideline | Risk Factor | Familial adenomatous polyposis results from germline mutations in the APC gene, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). | detail... |
APC mutant | colon adenoma | predicted - sensitive | TetMYB | Preclinical | Actionable | In a preclinical study, TetMYB treatment resulted in improved median survival compared to control (356 vs 183 days) in APC-driven mouse models of colon adenoma (Gastroenterology, Volume 154, Issue 6, Supplement 1, May 2018, Pages S-1269). | detail... |
APC mutant | colorectal cancer | no benefit | G-631 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, G-631 inhibited Wnt pathway signaling in colorectal cancer cell line xenograft models harboring an APC mutation, but demonstrated little anti-tumor activity and led to intestinal toxicity (PMID: 26692561). | 26692561 |
APC mutant | colorectal cancer | predicted - sensitive | K-756 | Preclinical | Actionable | In a preclinical study, K-756 inhibited Wnt signaling and reduced growth of 2/3 tested APC-mutant colorectal cancer cell lines in culture (PMID: 27196752). | 27196752 |
APC mutant | medulloblastoma | not applicable | N/A | Guideline | Prognostic | WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org). | detail... |
APC mutant | desmoid tumor | not applicable | N/A | Guideline | Diagnostic | APC mutations aid the diagnosis of desmoid tumor (NCCN.org). | detail... |
APC mutant | desmoid tumor | predicted - sensitive | Nirogacestat | Phase III | Actionable | In a Phase III trial (DeFi), Ogsiveo (nirogacestat) treatment resulted in improved progression-free survival (HR=0.21, p=0.016) and improved objective response rate (38% (5/13) vs. 13% (2/16)) compared to treatment with placebo in patients with desmoid tumors harboring mutations in APC (J Clin Oncol 42, 2024 (suppl 16; abstr 11558); NCT03785964). | detail... |