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Gene | APC |
Variant | S1356fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC S1356fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1356 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1356fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1356 (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 S1356fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112839659_112839660) |
cDNA | c.(4066_4065) |
Protein | p.S1356fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407453.1 | chr5:g.(112839836_112839837) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112839659_112839660) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112839659_112839660) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112839659_112839660) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_001354901.1 | chr5:g.(112839836_112839837) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_001354897.2 | chr5:g.(112839629_112839630) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112839659_112839660) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112839659_112839660) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112839659_112839660) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112839659_112839660) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_001354901.2 | chr5:g.(112839836_112839837) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112839659_112839660) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_001354897.1 | chr5:g.(112839629_112839630) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112839659_112839660) | c.(4066_4065) | p.S1356fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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