APC E633*
Gene Variant Detail

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Gene APC
Variant E633*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC E633* results in a premature truncation of the Apc protein at amino acid 633 of 2843 (UniProt.org). E633* has not been characterized, however, due to the effects of other truncation mutations downstream of E633 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC E633*

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Transcript NM_000038.6
gDNA chr5:g.112835104G>T
cDNA c.1897G>T
Protein p.E633*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.2 chr5:g.112835104G>T c.1897G>T p.E633* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112835104G>T c.1897G>T p.E633* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112835104G>T c.1897G>T p.E633* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112835104G>T c.1897G>T p.E633* RefSeq GRCh38/hg38
NM_001354898.2 chr5:g.112837566G>T c.1897G>T p.E633* 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

  • 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 E633* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E633* APC E1494* APC Q1529*