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Gene APC
Variant E1494K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC E1494K lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1494K has been identified in sequencing studies (PMID: 29137355), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC E1494K

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Transcript NM_000038.6
gDNA chr5:g.112840074G>A
cDNA c.4480G>A
Protein p.E1494K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407454.1 chr5:g.112840323G>A c.4480G>A p.E1494K RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112840074G>A c.4480G>A p.E1494K RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112840074G>A c.4480G>A p.E1494K RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.112840323G>A c.4480G>A p.E1494K RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112840074G>A c.4480G>A p.E1494K RefSeq GRCh38/hg38
NM_001407457.1 chr5:g.112840323G>A c.4480G>A p.E1494K RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112840074G>A c.4480G>A p.E1494K RefSeq GRCh38/hg38
NM_001127510 chr5:g.112840074G>A c.4480G>A p.E1494K RefSeq GRCh38/hg38
NM_000038 chr5:g.112840074G>A c.4480G>A p.E1494K RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.112840323G>A c.4480G>A p.E1494K RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112840074G>A c.4480G>A p.E1494K RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112840074G>A c.4480G>A p.E1494K RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112840074G>A c.4480G>A p.E1494K 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 Protein Effect Treatment Approaches
APC E1494K unknown