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Gene | APC |
Variant | L1488* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC L1488* results in a premature truncation of the Apc protein at amino acid 1488 of 2843 (UniProt.org). L1488* has not been characterized, however, due to the effects of other truncation mutations downstream of L1488 (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 L1488* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112840057T>A |
cDNA | c.4463T>A |
Protein | p.L1488* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |