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Gene APC
Variant E582fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC E582fs results in a change in the amino acid sequence of the Apc protein beginning at aa 582 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E582fs has not been characterized, however, due to the effects of other truncation mutations downstream of E582 (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 E582fs

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Transcript NM_000038.6
gDNA chr5:g.(112828972_112834951)
cDNA c.(1744_1743)
Protein p.E582fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.2 chr5:g.(112828972_112834951) c.(1744_1743) p.E582fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112828972_112834951) c.(1744_1743) p.E582fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112828972_112834951) c.(1744_1743) p.E582fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112828972_112834951) c.(1744_1743) p.E582fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112828972_112834951) c.(1744_1743) p.E582fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112828972_112834951) c.(1744_1743) p.E582fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112828972_112834951) c.(1744_1743) p.E582fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112828972_112834951) c.(1744_1743) p.E582fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112828972_112834951) c.(1744_1743) p.E582fs RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Protein Effect Treatment Approaches
APC E582fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor