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 | K1454E |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | APC K1454E lies within the beta-catenin binding and down-regulation region of the Apc protein (PMID: 14672538). K1454E suppresses beta-catenin mediated transcription at a level similar to wild-type Apc in cultured cells (PMID: 18199528), and therefore, is predicted to have no effect on Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC K1454E |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839954A>G |
cDNA | c.4360A>G |
Protein | p.K1454E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354903.2 | chr5:g.112840257A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_001407460.1 | chr5:g.112840257A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112839954A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112839954A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112839954A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112839954A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839954A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112839954A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112839954A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_001354903.1 | chr5:g.112840257A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_001407459.1 | chr5:g.112840257A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112839954A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_001407458.1 | chr5:g.112840257A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839954A>G | c.4360A>G | p.K1454E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|