Gene Variant Detail

Gene APC
Variant Q1294*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC Q1294* results in a premature truncation of the Apc protein at amino acid 1294 of 2843 within the mutator cluster region of the Apc protein (PMID: 14672538). Q1294* has not been characterized, however Apc truncation mutants downstream of Q1294 are inactivating (PMID: 18199528) thus, Q1294* is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance

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Transcript NM_000038
gDNA chr5:g.112839474C>T
cDNA c.3880C>T
Protein p.Q1294*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.112839474C>T c.3880C>T p.Q1294* RefSeq GRCh38/hg38
NM_000038 chr5:g.112839474C>T c.3880C>T p.Q1294* 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
  • 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 Q1294* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References