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Gene | APC |
Variant | T1487Ifs*21 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC T1487Ifs*21 indicates a shift in the reading frame starting at amino acid 1487 and terminating 21 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T1487Ifs*21 has not been characterized, however, due to the effects of other truncation mutations downstream of T1487 (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 T1487fs APC T1487Ifs*21 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112840052_112840053dupTA |
cDNA | c.4458_4459dupTA |
Protein | p.T1487Ifs*21 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510.3 | chr5:g.112840052_112840053dupTA | c.4458_4459dupTA | p.T1487Ifs*21 | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112840052_112840053dupTA | c.4458_4459dupTA | p.T1487Ifs*21 | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112840052_112840053dupTA | c.4458_4459dupTA | p.T1487Ifs*21 | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112840052_112840053dupTA | c.4458_4459dupTA | p.T1487Ifs*21 | RefSeq | GRCh38/hg38 |
NM_001407446.1 | chr5:g.112839969_112839970insTCCCCCCCCCCCCCCCAAAA | c.4459_4460insTCCCCCCCCCCCCCCCAAAA | p.T1487Ifs*21 | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112840052_112840053dupTA | c.4458_4459dupTA | p.T1487Ifs*21 | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112840052_112840053dupTA | c.4458_4459dupTA | p.T1487Ifs*21 | RefSeq | GRCh38/hg38 |
NM_001354905.2 | chr5:g.112840533_112840534insTCCCCCCCCCCCCCCCCCCCCCAAA | c.4459_4460insTCCCCCCCCCCCCCCCCCCCCCAAA | p.T1487Ifs*21 | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112840052_112840053dupTA | c.4458_4459dupTA | p.T1487Ifs*21 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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