Gene Variant Detail

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Gene APC
Variant E1284K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC E1284K lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1284K has been identified in the scientific literature (PMID: 28352668, PMID: 15072829), 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 E1284K

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Transcript NM_000038.6
gDNA chr5:g.112839444G>A
cDNA c.3850G>A
Protein p.E1284K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.112839444G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38
NM_001354898.2 chr5:g.112839519G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839444G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38
NM_001407472.1 chr5:g.112840596G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38
NM_001354898.1 chr5:g.112839519G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839444G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839444G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839444G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839444G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839444G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839444G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839444G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38
NM_001407471.1 chr5:g.112840596G>A c.3850G>A p.E1284K RefSeq GRCh38/hg38

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Sorting

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