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Gene APC
Variant D2490N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC D2490N lies within a region of the APC protein necessary for interaction with DLG1 (UniProt.org). D2490N has been identified in sequencing studies (PMID: 32913981), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC D2490N

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Transcript NM_000038.6
gDNA chr5:g.112843062G>A
cDNA c.7468G>A
Protein p.D2490N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.2 chr5:g.112843062G>A c.7468G>A p.D2490N RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112843062G>A c.7468G>A p.D2490N RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112843062G>A c.7468G>A p.D2490N RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112843062G>A c.7468G>A p.D2490N RefSeq GRCh38/hg38
NM_001127510 chr5:g.112843062G>A c.7468G>A p.D2490N RefSeq GRCh38/hg38
NM_000038 chr5:g.112843062G>A c.7468G>A p.D2490N RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112843062G>A c.7468G>A p.D2490N RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112843062G>A c.7468G>A p.D2490N RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112843062G>A c.7468G>A p.D2490N 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

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