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Gene | APC |
Variant | S1315fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC S1315fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1315 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1315fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1315 (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 S1315fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112839536_112839537) |
cDNA | c.(3943_3942) |
Protein | p.S1315fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510.3 | chr5:g.(112839536_112839537) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001354900.1 | chr5:g.(112839659_112839660) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001354900.2 | chr5:g.(112839659_112839660) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001407456.1 | chr5:g.(112839785_112839786) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112839536_112839537) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001354899.1 | chr5:g.(112839620_112839621) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112839536_112839537) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001407454.1 | chr5:g.(112839785_112839786) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001354899.2 | chr5:g.(112839620_112839621) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001354898.2 | chr5:g.(112839611_112839612) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112839536_112839537) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112839536_112839537) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112839536_112839537) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112839536_112839537) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112839536_112839537) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001407457.1 | chr5:g.(112839785_112839786) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112839536_112839537) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001354898.1 | chr5:g.(112839611_112839612) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
NM_001407455.1 | chr5:g.(112839785_112839786) | c.(3943_3942) | p.S1315fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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