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Gene | APC |
Variant | P1497fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC P1497fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1497 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1497fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1497 (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 P1497fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112840082_112840083) |
cDNA | c.(4489_4488) |
Protein | p.P1497fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510.2 | chr5:g.(112840082_112840083) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_001354906.1 | chr5:g.(112840931_112840932) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_001354906.2 | chr5:g.(112840931_112840932) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112840082_112840083) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_001407469.1 | chr5:g.(112840469_112840470) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112840082_112840083) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112840082_112840083) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112840082_112840083) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_001407470.1 | chr5:g.(112840931_112840932) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112840082_112840083) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_001407467.1 | chr5:g.(112840469_112840470) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112840082_112840083) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112840082_112840083) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112840082_112840083) | c.(4489_4488) | p.P1497fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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