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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_001127510.3 chr5:g.112815508G>A c.848G>A p.R283Q RefSeq GRCh38/hg38
NM_001127510.2 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_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_001407450.1 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_000038.5 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_001407456.1 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_001407454.1 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_001354895.2 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_000038.6 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_001407449.1 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_001407457.1 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
APC R283Q unknown