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Gene | APC |
Variant | L1302Rfs*3 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC L1302Rfs*3 indicates a shift in the reading frame starting at amino acid 1302 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L1302Rfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of L1302 (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 L1302fs APC L1302Rfs*3 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839499delT |
cDNA | c.3905delT |
Protein | p.L1302Rfs*3 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |