Gene Variant Detail

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Gene APC
Variant P1443Lfs*30
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC P1443Lfs*30 indicates a shift in the reading frame starting at amino acid 1443 and terminating 30 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). P1443Lfs*30 has not been characterized, however, due to the effects of other truncation mutations downstream of P1443 (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 P1443fs APC P1443Lfs*30

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Transcript NM_000038.5
gDNA chr5:g.112839922delC
cDNA c.4328delC
Protein p.P1443Lfs*30
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.112839920delT c.4326delT p.P1443Lfs*30 RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839920delT c.4326delT p.P1443Lfs*30 RefSeq GRCh38/hg38
NM_001354905.1 chr5:g.112840401_112840402insTAAA c.4327_4328insTAAA p.P1443Lfs*30 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839922delC c.4328delC p.P1443Lfs*30 RefSeq GRCh38/hg38
NM_001354897.1 chr5:g.(112839891_112839983) c.(4327_4419) p.P1443Lfs*30 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839922delC c.4328delC p.P1443Lfs*30 RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839922delC c.4328delC p.P1443Lfs*30 RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • 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