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Gene | APC |
Variant | S457* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC S457* results in a premature truncation of the Apc protein at amino acid 457 of 2843 (UniProt.org). S457* has not been characterized, however, due to the effects of other truncation mutations downstream of S457 (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 S457* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112821953C>A |
cDNA | c.1370C>A |
Protein | p.S457* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.1 | chr5:g.112821953C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112821953C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112821953C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
NM_001354904.2 | chr5:g.112834955C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
NM_001354896.2 | chr5:g.112821953C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112821953C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112821953C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
NM_001354896.1 | chr5:g.112821953C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112821953C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
NM_001407447.1 | chr5:g.112821953C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
NM_001407448.1 | chr5:g.112821953C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
NM_001407449.1 | chr5:g.112821953C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112821953C>A | c.1370C>A | p.S457* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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