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Gene | APC |
Variant | A1470fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC A1470fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1470 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1470fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1470 (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 A1470fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112840001_112840002) |
cDNA | c.(4408_4407) |
Protein | p.A1470fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.2 | chr5:g.(112840001_112840002) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112840001_112840002) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001407470.1 | chr5:g.(112840850_112840851) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001354906.2 | chr5:g.(112840850_112840851) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112840001_112840002) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001407457.1 | chr5:g.(112840250_112840251) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112840001_112840002) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112840001_112840002) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001354897.2 | chr5:g.(112839971_112839972) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001407455.1 | chr5:g.(112840250_112840251) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112840001_112840002) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001407454.1 | chr5:g.(112840250_112840251) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001407456.1 | chr5:g.(112840250_112840251) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112840001_112840002) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001354906.1 | chr5:g.(112840850_112840851) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112840001_112840002) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112840001_112840002) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
NM_001354897.1 | chr5:g.(112839971_112839972) | c.(4408_4407) | p.A1470fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC A1470fs | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |