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Gene | APC |
Variant | R1450* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC R1450* results in a premature truncation of the Apc protein at amino acid 1450 of 2843 (UniProt.org). R1450* results in reduced suppression of 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 R1450* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839942C>T |
cDNA | c.4348C>T |
Protein | p.R1450* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |