Gene Variant Detail

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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

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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_001407458.1 chr5:g.112840257A>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_001407460.1 chr5:g.112840257A>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_001127510.3 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_001407450.1 chr5:g.112839954A>G c.4360A>G p.K1454E RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839954A>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_001354903.1 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_000038 chr5:g.112839954A>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_001354903.2 chr5:g.112840257A>G c.4360A>G p.K1454E RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References