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Gene APC
Variant E1554fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC E1554fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1554 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1554fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1554 (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 E1554fs

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Transcript NM_000038.6
gDNA chr5:g.(112840253_112840254)
cDNA c.(4660_4659)
Protein p.E1554fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.5 chr5:g.(112840253_112840254) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001354896.2 chr5:g.(112840199_112840200) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001407469.1 chr5:g.(112840640_112840641) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001407447.1 chr5:g.(112840199_112840200) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112840253_112840254) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001407467.1 chr5:g.(112840640_112840641) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112840253_112840254) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001354902.1 chr5:g.(112840526_112840527) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001354896.1 chr5:g.(112840199_112840200) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112840253_112840254) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.(112840223_112840224) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001354902.2 chr5:g.(112840526_112840527) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001354897.1 chr5:g.(112840223_112840224) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112840253_112840254) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112840253_112840254) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112840253_112840254) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001407449.1 chr5:g.(112840199_112840200) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112840253_112840254) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001407448.1 chr5:g.(112840199_112840200) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112840253_112840254) c.(4660_4659) p.E1554fs RefSeq GRCh38/hg38

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

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