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Gene | APC |
Variant | N869fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC N869fs results in a change in the amino acid sequence of the Apc protein beginning at aa 869 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N869fs has not been characterized, however, due to the effects of other truncation mutations downstream of N869 (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 N869fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112838198_112838199) |
cDNA | c.(2605_2604) |
Protein | p.N869fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038 | chr5:g.(112838198_112838199) | c.(2605_2604) | p.N869fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112838198_112838199) | c.(2605_2604) | p.N869fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112838198_112838199) | c.(2605_2604) | p.N869fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112838198_112838199) | c.(2605_2604) | p.N869fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112838198_112838199) | c.(2605_2604) | p.N869fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112838198_112838199) | c.(2605_2604) | p.N869fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112838198_112838199) | c.(2605_2604) | p.N869fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112838198_112838199) | c.(2605_2604) | p.N869fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112838198_112838199) | c.(2605_2604) | p.N869fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC N869fs | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |