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Gene APC
Variant V1352Lfs*63
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC V1352Lfs*63 indicates a shift in the reading frame starting at amino acid 1352 and terminating 63 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). V1352Lfs*63 has not been characterized, however, due to the effects of other truncation mutations downstream of V1352 (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 V1352Lfs*63

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Transcript NM_000038.6
gDNA chr5:g.112839648delG
cDNA c.4054delG
Protein p.V1352Lfs*63
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510.3 chr5:g.112839648delG c.4054delG p.V1352Lfs*63 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839648delG c.4054delG p.V1352Lfs*63 RefSeq GRCh38/hg38
NM_001407467.1 chr5:g.(112840035_112840226) c.(4054_4245) p.V1352Lfs*63 RefSeq GRCh38/hg38
NM_001354898.2 chr5:g.(112839723_112839914) c.(4054_4245) p.V1352Lfs*63 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839648delG c.4054delG p.V1352Lfs*63 RefSeq GRCh38/hg38
NM_001407469.1 chr5:g.(112840035_112840226) c.(4054_4245) p.V1352Lfs*63 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839648delG c.4054delG p.V1352Lfs*63 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839648delG c.4054delG p.V1352Lfs*63 RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839648delG c.4054delG p.V1352Lfs*63 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839648delG c.4054delG p.V1352Lfs*63 RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References