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Gene | APC |
Variant | R302* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC R302* results in a premature truncation of the Apc protein at amino acid 302 of 2843 (UniProt.org). R302* has not been characterized, however, due to the effects of other truncation mutations downstream of R302 (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 R302* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112815564C>T |
cDNA | c.904C>T |
Protein | p.R302* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.2 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001407458.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001407456.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001407460.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001407454.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001354903.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001407447.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001407449.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001354896.2 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001407448.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001407455.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001354896.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001407459.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001407457.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
NM_001354903.2 | chr5:g.112815564C>T | c.904C>T | p.R302* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
APC R302* APC E1345* | colorectal cancer | sensitive | G007-LK + Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, the addition of G007-LK to Mekinist (trametinib) treatment resulted in increased inhibition of viability compared to Mekinist (trametinib) alone in a colorectal cancer patient-derived cell line harboring APC R302* and E1345* in culture (PMID: 37968472). | 37968472 |