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Gene | APC |
Variant | D1636Gfs*2 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | APC D1636Gfs*2 indicates a shift in the reading frame starting at amino acid 1636 and terminating two residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). D1636Gfs*2 has been identified in sequencing studies (PMID: 36013219), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC D1636fs APC D1636Gfs*2 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112840500dupG |
cDNA | c.4906dupG |
Protein | p.D1636Gfs*2 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.5 | chr5:g.112840500dupG | c.4906dupG | p.D1636Gfs*2 | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112840500dupG | c.4906dupG | p.D1636Gfs*2 | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112840500dupG | c.4906dupG | p.D1636Gfs*2 | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112840500dupG | c.4906dupG | p.D1636Gfs*2 | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112840500dupG | c.4906dupG | p.D1636Gfs*2 | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112840500dupG | c.4906dupG | p.D1636Gfs*2 | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112840500dupG | c.4906dupG | p.D1636Gfs*2 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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