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Gene | APC |
Variant | E1536fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC E1536fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1536 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1536fs has not been characterized however, due to the effects of other truncation mutations downstream of 1536 (PMID: 10346819), E1536fs is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC E1536fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112840199_112840200) |
cDNA | c.(4606_4605) |
Protein | p.E1536fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.5 | chr5:g.(112840199_112840200) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112840199_112840200) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112840199_112840200) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112840199_112840200) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112840199_112840200) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112840199_112840200) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_001127511.3 | chr5:g.(112840253_112840254) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112840199_112840200) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112840199_112840200) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_001127511 | chr5:g.(112840253_112840254) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_001127511.2 | chr5:g.(112840253_112840254) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112840199_112840200) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_001354900.1 | chr5:g.(112840322_112840323) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
NM_001354900.2 | chr5:g.(112840322_112840323) | c.(4606_4605) | p.E1536fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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