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Gene | APC |
Variant | F1354fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC F1354fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1354 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). F1354fs has not been characterized, however, due to the effects of other truncation mutations downstream of F1354 (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 F1354fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112839653_112839654) |
cDNA | c.(4060_4059) |
Protein | p.F1354fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.6 | chr5:g.(112839653_112839654) | c.(4060_4059) | p.F1354fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112839653_112839654) | c.(4060_4059) | p.F1354fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112839653_112839654) | c.(4060_4059) | p.F1354fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112839653_112839654) | c.(4060_4059) | p.F1354fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112839653_112839654) | c.(4060_4059) | p.F1354fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112839653_112839654) | c.(4060_4059) | p.F1354fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112839653_112839654) | c.(4060_4059) | p.F1354fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112839653_112839654) | c.(4060_4059) | p.F1354fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112839653_112839654) | c.(4060_4059) | p.F1354fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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