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 | S1411fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC S1411fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1411 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1411fs has not been characterized, however, due to the effects of truncation mutations downstream of S1411 (PMID: 10346819, PMID: 18199528), is predicted to lead to a loss in Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC S1411fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112839824_112839825) |
cDNA | c.(4231_4230) |
Protein | p.S1411fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.5 | chr5:g.(112839824_112839825) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_001407452.1 | chr5:g.(112839854_112839855) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112839824_112839825) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_001354898.1 | chr5:g.(112839899_112839900) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112839824_112839825) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_001407472.1 | chr5:g.(112840976_112840977) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112839824_112839825) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_001354898.2 | chr5:g.(112839899_112839900) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112839824_112839825) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112839824_112839825) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_001407471.1 | chr5:g.(112840976_112840977) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112839824_112839825) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112839824_112839825) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112839824_112839825) | c.(4231_4230) | p.S1411fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC S1411fs | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |