Gene Variant Detail

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Gene APC
Variant S1465Wfs*3
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC S1465Wfs*3 indicates a shift in the reading frame starting at amino acid 1465 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). S1465Wfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of S1465 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC S1465fs APC S1465Wfs*3

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Transcript NM_000038.6
gDNA chr5:g.112839987_112839988delAG
cDNA c.4393_4394delAG
Protein p.S1465Wfs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.5 chr5:g.112839987_112839988delAG c.4393_4394delAG p.S1465Wfs*3 RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839987_112839988delAG c.4393_4394delAG p.S1465Wfs*3 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839987_112839988delAG c.4393_4394delAG p.S1465Wfs*3 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839987_112839988delAG c.4393_4394delAG p.S1465Wfs*3 RefSeq GRCh38/hg38
NM_000038 chr5:g.112839987_112839988delAG c.4393_4394delAG p.S1465Wfs*3 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839987_112839988delAG c.4393_4394delAG p.S1465Wfs*3 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839987_112839988delAG c.4393_4394delAG p.S1465Wfs*3 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839987_112839988delAG c.4393_4394delAG p.S1465Wfs*3 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839987_112839988delAG c.4393_4394delAG p.S1465Wfs*3 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries