Gene Variant Detail

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Gene APC
Variant D1394fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC D1394fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1394 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1394fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1394 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC D1394fs

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Transcript NM_000038.5
gDNA chr5:g.(112839773_112839774)
cDNA c.(4180_4179)
Protein p.D1394fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354899.1 chr5:g.(112839857_112839858) c.(4180_4179) p.D1394fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839773_112839774) c.(4180_4179) p.D1394fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112839773_112839774) c.(4180_4179) p.D1394fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112839773_112839774) c.(4180_4179) p.D1394fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112839773_112839774) c.(4180_4179) p.D1394fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112839773_112839774) c.(4180_4179) p.D1394fs RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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