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Gene | APC |
Variant | N1026S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | APC N1026S lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). N1026S confers a loss of function on Apc, as indicated by diminished binding to Ctnnb1 and moderate activation of target genes in cell culture (PMID: 18166348). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC N1026S |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838671A>G |
cDNA | c.3077A>G |
Protein | p.N1026S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |