Gene Variant Detail

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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, Nov 2022).
Associated Drug Resistance
Category Variants Paths

APC mutant APC R283Q

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Transcript NM_000038.5
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_001354895.1 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_000038.5 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References