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Gene APC
Variant E1494fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC E1494fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1494 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1494fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1494 (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 E1494fs

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Transcript NM_000038.6
gDNA chr5:g.(112840073_112840074)
cDNA c.(4480_4479)
Protein p.E1494fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407454.1 chr5:g.(112840322_112840323) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112840073_112840074) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.(112840322_112840323) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112840073_112840074) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112840073_112840074) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112840073_112840074) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112840073_112840074) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112840073_112840074) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112840073_112840074) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112840073_112840074) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.(112840322_112840323) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112840073_112840074) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38
NM_001407457.1 chr5:g.(112840322_112840323) c.(4480_4479) p.E1494fs RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References