Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | APC |
Variant | R499* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC R499* results in a premature truncation of the Apc protein at amino acid 499 of 2843 (UniProt.org). R499* has not been characterized, however, due to the effects of other truncation mutations downstream of R499 (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 R499* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112827194C>T |
cDNA | c.1495C>T |
Protein | p.R499* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510 | chr5:g.112827194C>T | c.1495C>T | p.R499* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112827194C>T | c.1495C>T | p.R499* | RefSeq | GRCh38/hg38 |
NM_001354899.1 | chr5:g.112827959A>T | c.1495A>T | p.R499* | RefSeq | GRCh38/hg38 |
NM_001354899.2 | chr5:g.112827959A>T | c.1495A>T | p.R499* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112827194C>T | c.1495C>T | p.R499* | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112827194C>T | c.1495C>T | p.R499* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112827194C>T | c.1495C>T | p.R499* | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112827194C>T | c.1495C>T | p.R499* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112827194C>T | c.1495C>T | p.R499* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112827194C>T | c.1495C>T | p.R499* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112827194C>T | c.1495C>T | p.R499* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
APC R499* | 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 R499* in culture (PMID: 37968472). | 37968472 |