APC L1564*
Gene Variant Detail

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Gene APC
Variant L1564*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC L1564* results in a premature truncation of the Apc protein at amino acid 1564 of 2843 (UniProt.org). L1564* has not been characterized, however, due to the effects of other truncation mutations downstream of L1564 (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 L1564*

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Transcript NM_000038.6
gDNA chr5:g.112840285T>A
cDNA c.4691T>A
Protein p.L1564*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407450.1 chr5:g.112840285T>A c.4691T>A p.L1564* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112840285T>A c.4691T>A p.L1564* RefSeq GRCh38/hg38
NM_001354905.1 chr5:g.112840764_112840766delCTTinsTAA c.4690_4692delCTTinsTAA p.L1564* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112840285T>A c.4691T>A p.L1564* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112840285T>A c.4691T>A p.L1564* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112840285T>A c.4691T>A p.L1564* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112840285T>A c.4691T>A p.L1564* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112840285T>A c.4691T>A p.L1564* RefSeq GRCh38/hg38
NM_000038 chr5:g.112840285T>A c.4691T>A p.L1564* RefSeq GRCh38/hg38
NM_001354905.2 chr5:g.112840764_112840766delCTTinsTAA c.4690_4692delCTTinsTAA p.L1564* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112840285T>A c.4691T>A p.L1564* RefSeq GRCh38/hg38

Filtering

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