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Gene APC
Variant E1286G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC E1286G lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1286G has been identified in sequencing studies (PMID: 21720365), 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 E1286G

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Transcript NM_000038.6
gDNA chr5:g.112839451A>G
cDNA c.3857A>G
Protein p.E1286G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.6 chr5:g.112839451A>G c.3857A>G p.E1286G RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839451A>G c.3857A>G p.E1286G RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839451A>G c.3857A>G p.E1286G RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839451A>G c.3857A>G p.E1286G RefSeq GRCh38/hg38
NM_000038 chr5:g.112839451A>G c.3857A>G p.E1286G RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839451A>G c.3857A>G p.E1286G RefSeq GRCh38/hg38
NM_001354901.1 chr5:g.112839628A>G c.3857A>G p.E1286G RefSeq GRCh38/hg38
NM_001354901.2 chr5:g.112839628A>G c.3857A>G p.E1286G RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839451A>G c.3857A>G p.E1286G RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839451A>G c.3857A>G p.E1286G RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839451A>G c.3857A>G p.E1286G RefSeq GRCh38/hg38
NM_001407453.1 chr5:g.112839628A>G c.3857A>G p.E1286G RefSeq GRCh38/hg38

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