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Gene | APC |
Variant | N813S |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | APC N813S does not lie within any known functional domains of the Apc protein (UniProt.org). N813S results in Axin2 signaling and Tcf/Lef transcriptional activity similar to wild-type Apc in cultured cells (PMID: 15133491), and therefore, is predicted to have no effect on Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC N813S |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838032A>G |
cDNA | c.2438A>G |
Protein | p.N813S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.6 | chr5:g.112838032A>G | c.2438A>G | p.N813S | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112838032A>G | c.2438A>G | p.N813S | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112838032A>G | c.2438A>G | p.N813S | RefSeq | GRCh38/hg38 |
NM_001407467.1 | chr5:g.112838419A>G | c.2438A>G | p.N813S | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838032A>G | c.2438A>G | p.N813S | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112838032A>G | c.2438A>G | p.N813S | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112838032A>G | c.2438A>G | p.N813S | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838032A>G | c.2438A>G | p.N813S | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112838032A>G | c.2438A>G | p.N813S | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112838032A>G | c.2438A>G | p.N813S | RefSeq | GRCh38/hg38 |
NM_001407469.1 | chr5:g.112838419A>G | c.2438A>G | p.N813S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC N813S | no effect - predicted |