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Gene APC
Variant E1309Afs*3
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions APC E1309Afs*3 indicates a shift in the reading frame starting at amino acid 1309 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). E1309Afs*3 confers a loss of function to Apc as demonstrated by a reduced ability to regulate beta-catenin (PMID: 10213492, PMID: 17189293).
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC E1309fs APC E1309Afs*3

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Transcript NM_000038.6
gDNA chr5:g.112839519_112839520insCCCCAT
cDNA c.3925_3926insCCCCAT
Protein p.E1309Afs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407471.1 chr5:g.112840671_112840672insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839519_112839520insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839519_112839520insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839519_112839520insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839519_112839520insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839519_112839520insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 RefSeq GRCh38/hg38
NM_001407472.1 chr5:g.112840671_112840672insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839519_112839520insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839519_112839520insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839519_112839520insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 RefSeq GRCh38/hg38
NM_000038 chr5:g.112839519_112839520insCCCCAT c.3925_3926insCCCCAT p.E1309Afs*3 RefSeq GRCh38/hg38

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