Gene Variant Detail

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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

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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_001354904.2 chr5:g.112838498_112838499insCTCCCCCCCCCCCCAAA c.2526_2527insCTCCCCCCCCCCCCAAA p.S843Lfs*17 RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.112838370_112838371insTCCCCCCAAA c.2527_2528insTCCCCCCAAA p.S843Lfs*17 RefSeq GRCh38/hg38
NM_001127510.2 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_000038.6 chr5:g.112838121_112838124delAGTT c.2527_2530delAGTT p.S843Lfs*17 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112838121_112838124delAGTT c.2527_2530delAGTT p.S843Lfs*17 RefSeq GRCh38/hg38
NM_001354906.2 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_001407470.1 chr5:g.112838969_112838970insCTCCCCCCCCCCCCCCCCCCCCCAA c.2526_2527insCTCCCCCCCCCCCCCCCCCCCCCAA p.S843Lfs*17 RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.112838090_112838091insCTCCCCCCCCCCCCCCCAA c.2526_2527insCTCCCCCCCCCCCCCCCAA p.S843Lfs*17 RefSeq GRCh38/hg38
NM_001407450.1 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_000038.5 chr5:g.112838121_112838124delAGTT c.2527_2530delAGTT p.S843Lfs*17 RefSeq GRCh38/hg38
NM_001127510.3 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

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries