APC Q1338*
Gene Variant Detail

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Gene APC
Variant Q1338*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions APC Q1338* results in a premature truncation of the Apc protein at amino acid 1338 of 2843 (UniProt.org). Q1338* retains binding with Axin1 but confers a loss of function to Apc as demonstrated by decreased beta-catenin recruitment, phosphorylation, and ubiquitination in cultured cells (PMID: 34352208).
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC Q1338*

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Transcript NM_000038.6
gDNA chr5:g.112839606C>T
cDNA c.4012C>T
Protein p.Q1338*
Source Database RefSeq
Genome Build 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.