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@genomenon.com
Gene | APC |
Variant | R1450* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC R1450* results in a premature truncation of the Apc protein at amino acid 1450 of 2843 (UniProt.org). R1450* results in reduced suppression of beta-catenin activity in culture (PMID: 18199528), and therefore, is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC R1450* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839942C>T |
cDNA | c.4348C>T |
Protein | p.R1450* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.6 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001354899.1 | chr5:g.112840026_112840027delAGinsTA | c.4348_4349delAGinsTA | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001354899.2 | chr5:g.112840026_112840027delAGinsTA | c.4348_4349delAGinsTA | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
APC R1450* | colorectal cancer | sensitive | STP1002 | Preclinical - Pdx | Actionable | In a preclinical study, STP1002 inhibited tumor growth in a colorectal cancer patient-derived xenograft (PDX) model harboring APC R1450* (PMID: 35849876). | 35849876 |