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Gene APC
Variant E1309Dfs*4
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC E1309Dfs*4 indicates a shift in the reading frame starting at amino acid 1309 and terminating 4 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). E1309Dfs*4 has not been characterized, however, based on the effects of a similar frameshift mutation at E1309 (PMID: 10213492, PMID: 17189293), is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC E1309fs APC E1309Dfs*4

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Transcript NM_000038.6
gDNA chr5:g.112839520_112839521insCAACCCAT
cDNA c.3926_3927insCAACCCAT
Protein p.E1309Dfs*4
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407472.1 chr5:g.112840672_112840673insCAACCCAT c.3926_3927insCAACCCAT p.E1309Dfs*4 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839520_112839521insCAACCCAT c.3926_3927insCAACCCAT p.E1309Dfs*4 RefSeq GRCh38/hg38
NM_001407471.1 chr5:g.112840672_112840673insCAACCCAT c.3926_3927insCAACCCAT p.E1309Dfs*4 RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839520_112839521insTTTCCCTT c.3926_3927insTTTCCCTT p.E1309Dfs*4 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839520_112839521insCAACCCAT c.3926_3927insCAACCCAT p.E1309Dfs*4 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839520_112839521insCAACCCAT c.3926_3927insCAACCCAT p.E1309Dfs*4 RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839520_112839521insCAACCCAT c.3926_3927insCAACCCAT p.E1309Dfs*4 RefSeq GRCh38/hg38
NM_000038 chr5:g.112839520_112839521insTTTCCCTT c.3926_3927insTTTCCCTT p.E1309Dfs*4 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839520_112839521insCAACCCAT c.3926_3927insCAACCCAT p.E1309Dfs*4 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839520_112839521insCAACCCAT c.3926_3927insCAACCCAT p.E1309Dfs*4 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839520_112839521insCAACCCAT c.3926_3927insCAACCCAT p.E1309Dfs*4 RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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 E1309Dfs*4 loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor