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Gene | APC |
Variant | A952Qfs*10 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC A952Qfs*10 indicates a shift in the reading frame starting at amino acid 952 and terminating 10 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). A952Qfs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of A952 (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 A952Qfs*10 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838448_112838449delGC |
cDNA | c.2854_2855delGC |
Protein | p.A952Qfs*10 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.6 | chr5:g.112838448_112838449delGC | c.2854_2855delGC | p.A952Qfs*10 | RefSeq | GRCh38/hg38 |
NM_001354901.2 | chr5:g.112838624_112838625insCACCCCCCCCCAA | c.2853_2854insCACCCCCCCCCAA | p.A952Qfs*10 | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112838448_112838449delGC | c.2854_2855delGC | p.A952Qfs*10 | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112838447_112838448delTG | c.2853_2854delTG | p.A952Qfs*10 | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838448_112838449delGC | c.2854_2855delGC | p.A952Qfs*10 | RefSeq | GRCh38/hg38 |
NM_001407453.1 | chr5:g.112838624_112838625insCACCCCCCCCCAA | c.2853_2854insCACCCCCCCCCAA | p.A952Qfs*10 | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112838447_112838448delTG | c.2853_2854delTG | p.A952Qfs*10 | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838448_112838449delGC | c.2854_2855delGC | p.A952Qfs*10 | RefSeq | GRCh38/hg38 |
NM_001354901.1 | chr5:g.112838624_112838625insCACCCCCCCCCAA | c.2853_2854insCACCCCCCCCCAA | p.A952Qfs*10 | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112838448_112838449delGC | c.2854_2855delGC | p.A952Qfs*10 | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112838448_112838449delGC | c.2854_2855delGC | p.A952Qfs*10 | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112838448_112838449delGC | c.2854_2855delGC | p.A952Qfs*10 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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