Gene Variant Detail

Gene APC
Variant E1306*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC E1306* results in a premature truncation of the Apc protein at amino acid 1306 of 2843 (UniProt.org). E1306* has not been characterized, however, due to the effects of an Apc truncation at I1572 (PMID: 10346819), E1306* is predicted to reduce the ability of Apc to regulate beta-catenin.
Associated Drug Resistance

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Transcript NM_000038
gDNA chr5:g.112839510G>T
cDNA c.3916G>T
Protein p.E1306*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.112839510G>T c.3916G>T p.E1306* RefSeq GRCh38/hg38
NM_000038 chr5:g.112839510G>T c.3916G>T p.E1306* 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"

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Molecular Profile Protein Effect Treatment Approaches
APC E1306* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References