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Gene | APC |
Variant | S843Lfs*17 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC S843Lfs*17 indicates a shift in the reading frame starting at amino acid 843 and terminating 17 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). S843Lfs*17 has not been characterized, however, due to the effects of other truncation mutations downstream of S843 (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 S843Lfs*17 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838121_112838124delAGTT |
cDNA | c.2527_2530delAGTT |
Protein | p.S843Lfs*17 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510.3 | chr5:g.112838121_112838124delAGTT | c.2527_2530delAGTT | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112838121_112838124delAGTT | c.2527_2530delAGTT | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_001407454.1 | chr5:g.112838370_112838371insTCCCCCCAAA | c.2527_2528insTCCCCCCAAA | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_001407470.1 | chr5:g.112838969_112838970insCTCCCCCCCCCCCCCCCCCCCCCAA | c.2526_2527insCTCCCCCCCCCCCCCCCCCCCCCAA | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_001407455.1 | chr5:g.112838370_112838371insTCCCCCCAAA | c.2527_2528insTCCCCCCAAA | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112838121_112838124delAGTT | c.2527_2530delAGTT | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_001407456.1 | chr5:g.112838370_112838371insTCCCCCCAAA | c.2527_2528insTCCCCCCAAA | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_001354897.2 | chr5:g.112838090_112838091insCTCCCCCCCCCCCCCCCAA | c.2526_2527insCTCCCCCCCCCCCCCCCAA | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_001354906.2 | chr5:g.112838969_112838970insCTCCCCCCCCCCCCCCCCCCCCCAA | c.2526_2527insCTCCCCCCCCCCCCCCCCCCCCCAA | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_001354904.2 | chr5:g.112838498_112838499insCTCCCCCCCCCCCCAAA | c.2526_2527insCTCCCCCCCCCCCCAAA | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112838121_112838124delAGTT | c.2527_2530delAGTT | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838121_112838124delAGTT | c.2527_2530delAGTT | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_001407457.1 | chr5:g.112838370_112838371insTCCCCCCAAA | c.2527_2528insTCCCCCCAAA | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112838121_112838124delAGTT | c.2527_2530delAGTT | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112838121_112838124delAGTT | c.2527_2530delAGTT | p.S843Lfs*17 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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