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 | Q2372* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | APC Q2372* results in a premature truncation of the Apc protein at amino acid 2372 of 2843 (UniProt.org). Q2372* has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC Q2372* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112842708C>T |
cDNA | c.7114C>T |
Protein | p.Q2372* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407446.1 | chr5:g.112842624C>T | c.7114C>T | p.Q2372* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112842708C>T | c.7114C>T | p.Q2372* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112842708C>T | c.7114C>T | p.Q2372* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112842708C>T | c.7114C>T | p.Q2372* | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112842708C>T | c.7114C>T | p.Q2372* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112842708C>T | c.7114C>T | p.Q2372* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112842708C>T | c.7114C>T | p.Q2372* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112842708C>T | c.7114C>T | p.Q2372* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|