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Gene | APC |
Variant | R876* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC R876* results in a premature truncation of the Apc protein at amino acid 876 of 2843 (UniProt.org). R876* has not been characterized, however, due to the effects of other truncation mutations downstream of R876 (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 R876* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838220C>T |
cDNA | c.2626C>T |
Protein | p.R876* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.1 | chr5:g.112838220C>T | c.2626C>T | p.R876* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112838220C>T | c.2626C>T | p.R876* | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112838220C>T | c.2626C>T | p.R876* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112838220C>T | c.2626C>T | p.R876* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112838220C>T | c.2626C>T | p.R876* | RefSeq | GRCh38/hg38 |
NM_001354899.2 | chr5:g.112838304A>T | c.2626A>T | p.R876* | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112838220C>T | c.2626C>T | p.R876* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838220C>T | c.2626C>T | p.R876* | RefSeq | GRCh38/hg38 |
NM_001354899.1 | chr5:g.112838304A>T | c.2626A>T | p.R876* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838220C>T | c.2626C>T | p.R876* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112838220C>T | c.2626C>T | p.R876* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
APC R876* | colorectal cancer | sensitive | G007-LK | Preclinical - Patient cell culture | Actionable | In a preclinical study, G007-LK inhibited viability of a patient-derived colorectal cancer cell line harboring APC R876* in culture (PMID: 37968472). | 37968472 |
APC R876* | colorectal cancer | sensitive | Buparlisib + G007-LK | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of G007-LK and Buparlisib (BKM120) inhibited viability of a colorectal cancer patient-derived cell line harboring APC R876* in culture (PMID: 37968472). | 37968472 |