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Gene | APC |
Variant | E1577* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | APC E1577* results in a premature truncation of the Apc protein at amino acid 1577 of 2843 (UniProt.org). E1577* is associated with elevated beta-catenin in a cell line (PMID: 10874025), but has not been fully biochemically characterized and therefore, its effect on Apc protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC E1577* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112840323G>T |
cDNA | c.4729G>T |
Protein | p.E1577* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.1 | chr5:g.112840323G>T | c.4729G>T | p.E1577* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112840323G>T | c.4729G>T | p.E1577* | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112840323G>T | c.4729G>T | p.E1577* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112840323G>T | c.4729G>T | p.E1577* | RefSeq | GRCh38/hg38 |
NM_001354902.1 | chr5:g.112840596G>T | c.4729G>T | p.E1577* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112840323G>T | c.4729G>T | p.E1577* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112840323G>T | c.4729G>T | p.E1577* | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112840323G>T | c.4729G>T | p.E1577* | RefSeq | GRCh38/hg38 |
NM_001354902.2 | chr5:g.112840596G>T | c.4729G>T | p.E1577* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112840323G>T | c.4729G>T | p.E1577* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112840323G>T | c.4729G>T | p.E1577* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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