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Gene APC
Variant D1486fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC D1486fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1486 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1486fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1486 (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 D1486fs

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Transcript NM_000038.6
gDNA chr5:g.(112840049_112840050)
cDNA c.(4456_4455)
Protein p.D1486fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510.3 chr5:g.(112840049_112840050) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112840049_112840050) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112840049_112840050) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_001407457.1 chr5:g.(112840298_112840299) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112840049_112840050) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112840049_112840050) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.(112840298_112840299) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_001407454.1 chr5:g.(112840298_112840299) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_001407471.1 chr5:g.(112841201_112841202) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_001407472.1 chr5:g.(112841201_112841202) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.(112840298_112840299) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112840049_112840050) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112840049_112840050) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112840049_112840050) c.(4456_4455) p.D1486fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112840049_112840050) c.(4456_4455) p.D1486fs 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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  • 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