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| Gene | APC |
| Variant | L954* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | APC L954* results in a premature truncation of the Apc protein at amino acid 954 of 2843 (UniProt.org). L954* has not been characterized, however, due to the effects of other truncation mutations downstream of L954 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
APC mutant APC inact mut APC L954* |
| Transcript | NM_000038.6 |
| gDNA | chr5:g.112838455T>A |
| cDNA | c.2861T>A |
| Protein | p.L954* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407450.1 | chr5:g.112838455T>A | c.2861T>A | p.L954* | RefSeq | GRCh38/hg38 |
| NM_001354895.2 | chr5:g.112838455T>A | c.2861T>A | p.L954* | RefSeq | GRCh38/hg38 |
| NM_000038.6 | chr5:g.112838455T>A | c.2861T>A | p.L954* | RefSeq | GRCh38/hg38 |
| NM_001127510.3 | chr5:g.112838455T>A | c.2861T>A | p.L954* | RefSeq | GRCh38/hg38 |
| NM_001407452.1 | chr5:g.112838485T>A | c.2861T>A | p.L954* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| APC L954* | colorectal cancer | sensitive | G007-LK | Preclinical - Cell culture | Actionable | In a preclinical study, G007-LK inhibited viability of a patient-derived colorectal cancer cell line harboring APC L954* in culture (PMID: 37968472). | 37968472 |