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Gene | APC |
Variant | L795Sfs*25 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC L795Sfs*25 indicates a shift in the reading frame starting at amino acid 795 and terminating 25 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L795Sfs*25 has not been characterized, however, due to the effects of other truncation mutations downstream of L795 (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 L795Sfs*25 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112837977delC |
cDNA | c.2383delC |
Protein | p.L795Sfs*25 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038 | chr5:g.112837977delC | c.2383delC | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112837977delC | c.2383delC | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
NM_001407454.1 | chr5:g.(112838226_112838303) | c.(2383_2460) | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112837977delC | c.2383delC | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112837977delC | c.2383delC | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
NM_001407456.1 | chr5:g.(112838226_112838303) | c.(2383_2460) | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112837977delC | c.2383delC | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112837977delC | c.2383delC | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
NM_001407457.1 | chr5:g.(112838226_112838303) | c.(2383_2460) | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112837977delC | c.2383delC | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112837977delC | c.2383delC | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112837977delC | c.2383delC | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
NM_001407455.1 | chr5:g.(112838226_112838303) | c.(2383_2460) | p.L795Sfs*25 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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