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| Gene | APC |
| Variant | S320* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | APC S320* results in a premature truncation of the Apc protein at amino acid 320 of 2843 (UniProt.org). S320* has not been characterized, however, due to the effects of other truncation mutations downstream of S320 (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 S320* |
| Transcript | NM_000038.6 |
| gDNA | chr5:g.112818991C>A |
| cDNA | c.959C>A |
| Protein | p.S320* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |