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Gene APC
Variant R499*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC R499* results in a premature truncation of the Apc protein at amino acid 499 of 2843 (UniProt.org). R499* has not been characterized, however, due to the effects of other truncation mutations downstream of R499 (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 R499*

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Transcript NM_000038.6
gDNA chr5:g.112827194C>T
cDNA c.1495C>T
Protein p.R499*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.112827194C>T c.1495C>T p.R499* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112827194C>T c.1495C>T p.R499* RefSeq GRCh38/hg38
NM_001354899.2 chr5:g.112827959A>T c.1495A>T p.R499* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112827194C>T c.1495C>T p.R499* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112827194C>T c.1495C>T p.R499* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112827194C>T c.1495C>T p.R499* RefSeq GRCh38/hg38
NM_001354899.1 chr5:g.112827959A>T c.1495A>T p.R499* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112827194C>T c.1495C>T p.R499* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112827194C>T c.1495C>T p.R499* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112827194C>T c.1495C>T p.R499* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112827194C>T c.1495C>T p.R499* 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
APC R499* colorectal cancer sensitive G007-LK Preclinical - Patient cell culture Actionable In a preclinical study, G007-LK inhibited viability of a patient-derived colorectal cancer cell line harboring APC R499* in culture (PMID: 37968472). 37968472