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Gene | APC |
Variant | A1446fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC A1446fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1446 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1446fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1446 (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 A1446fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112839929_112839930) |
cDNA | c.(4336_4335) |
Protein | p.A1446fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.5 | chr5:g.(112839929_112839930) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_001354898.1 | chr5:g.(112840004_112840005) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112839929_112839930) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112839929_112839930) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_001354899.1 | chr5:g.(112840013_112840014) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_001354898.2 | chr5:g.(112840004_112840005) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112839929_112839930) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_001354899.2 | chr5:g.(112840013_112840014) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112839929_112839930) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112839929_112839930) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112839929_112839930) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112839929_112839930) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_001354905.1 | chr5:g.(112840409_112840410) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_001354905.2 | chr5:g.(112840409_112840410) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112839929_112839930) | c.(4336_4335) | p.A1446fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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