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Gene APC
Variant R283Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC R283Q does not lie within any known functional domains of the Apc protein (Uniprot.org). R283Q has been identified in sequencing studies (PMID: 34160418), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC R283Q

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Transcript NM_000038.6
gDNA chr5:g.112815508G>A
cDNA c.848G>A
Protein p.R283Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510.2 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001407454.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001407448.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001407457.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001407458.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001354903.2 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001354896.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001354903.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001407460.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001407449.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001354896.2 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001407447.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001407459.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38

Filtering

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  • 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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