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Gene | APC |
Variant | S1495I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC S1495I lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). S1495I has been identified in sequencing studies (PMID: 21807601, PMID: 27121310), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC S1495I |
Transcript | NM_000038.6 |
gDNA | chr5:g.112840078G>T |
cDNA | c.4484G>T |
Protein | p.S1495I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.1 | chr5:g.112840078G>T | c.4484G>T | p.S1495I | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112840078G>T | c.4484G>T | p.S1495I | RefSeq | GRCh38/hg38 |
NM_001407452.1 | chr5:g.112840108G>T | c.4484G>T | p.S1495I | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112840078G>T | c.4484G>T | p.S1495I | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112840078G>T | c.4484G>T | p.S1495I | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112840078G>T | c.4484G>T | p.S1495I | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112840078G>T | c.4484G>T | p.S1495I | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112840078G>T | c.4484G>T | p.S1495I | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112840078G>T | c.4484G>T | p.S1495I | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112840078G>T | c.4484G>T | p.S1495I | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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