Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | APC |
Variant | A614Tfs*21 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC A614Tfs*21 indicates a shift in the reading frame starting at amino acid 614 and terminating 21 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). A614Tfs*21 has not been characterized, however, due to the effects of other truncation mutations downstream of A614 (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 A614Tfs*21 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112835046_112835047insACAA |
cDNA | c.1839_1840insACAA |
Protein | p.A614Tfs*21 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.6 | chr5:g.112835046_112835047insACAA | c.1839_1840insACAA | p.A614Tfs*21 | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112835046_112835047insACAA | c.1839_1840insACAA | p.A614Tfs*21 | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112835046_112835047insACAA | c.1839_1840insACAA | p.A614Tfs*21 | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112835046_112835047insACAA | c.1839_1840insACAA | p.A614Tfs*21 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|