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Gene | APC |
Variant | E1309* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC E1309* results in a premature truncation of the Apc protein at amino acid 1309 of 2843 (UniProt.org). E1309* lacks the ability to suppress beta-catenin activity in culture (PMID: 18199528), and therefore, is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC E1309* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839519G>T |
cDNA | c.3925G>T |
Protein | p.E1309* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |