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APC L795Sfs*25 - Gene Variant Detail

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Gene APC
Variant L795Sfs*25
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC L795Sfs*25 indicates a shift in the reading frame starting at amino acid 795 and terminating 25 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L795Sfs*25 has not been characterized, however, due to the effects of other truncation mutations downstream of L795 (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 L795Sfs*25

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Transcript NM_000038.6
gDNA chr5:g.112837977delC
cDNA c.2383delC
Protein p.L795Sfs*25
Source Database RefSeq
Genome Build GRCh38/hg38

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