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Gene | APC |
Variant | L852* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC L852* results in a premature truncation of the Apc protein at amino acid 852 of 2843 (UniProt.org). L852* has not been characterized, however, due to the effects of other truncation mutations downstream of L852 (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 L852* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838149T>A |
cDNA | c.2555T>A |
Protein | p.L852* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.2 | chr5:g.112838149T>A | c.2555T>A | p.L852* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112838149T>A | c.2555T>A | p.L852* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112838149T>A | c.2555T>A | p.L852* | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112838149T>A | c.2555T>A | p.L852* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112838149T>A | c.2555T>A | p.L852* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112838149T>A | c.2555T>A | p.L852* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838149T>A | c.2555T>A | p.L852* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
APC L852* | colorectal cancer | predicted - resistant | G007-LK | Preclinical | Actionable | In a preclinical study, G007-LK treatment did not alter gene expression pattern or affect growth in intestinal organoids established from mouse models of colorectal cancer driven by APC L850* (corresponding to L852* in human), and had no effect on tumor cell growth and differentiation in APC L850* mouse models (PMID: 31337618). | 31337618 |