Gene Variant Detail

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Gene APC
Variant K1310D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC K1310D lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). K1310D has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC K1310D

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Transcript NM_000038.6
gDNA chr5:g.112839522_112839524delAAGinsGAC
cDNA c.3928_3930delAAGinsGAC
Protein p.K1310D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354906.2 chr5:g.112840371_112840373delAAGinsGAC c.3928_3930delAAGinsGAC p.K1310D RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839522_112839524delAAGinsGAC c.3928_3930delAAGinsGAC p.K1310D RefSeq GRCh38/hg38
NM_001407470.1 chr5:g.112840371_112840373delAAGinsGAC c.3928_3930delAAGinsGAC p.K1310D RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839522_112839524delAAGinsGAC c.3928_3930delAAGinsGAC p.K1310D RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839522_112839524delAAGinsGAC c.3928_3930delAAGinsGAC p.K1310D RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839522_112839524delAAGinsGAC c.3928_3930delAAGinsGAC p.K1310D RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839522_112839524delAAGinsGAC c.3928_3930delAAGinsGAC p.K1310D RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839522_112839524delAAGinsGAC c.3928_3930delAAGinsGAC p.K1310D RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839522_112839524delAAGinsGAC c.3928_3930delAAGinsGAC p.K1310D RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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...
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 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 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 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 desmoid tumor not applicable N/A Guideline Diagnostic APC mutations aid the diagnosis of desmoid tumor (NCCN.org). detail...