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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
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354906.2 chr5:g.112840455C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354902.1 chr5:g.112839879C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354906.1 chr5:g.112840455C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354897.1 chr5:g.112839576C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001407470.1 chr5:g.112840455C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354902.2 chr5:g.112839879C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_000038 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.112839576C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38

Filtering

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  • 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 Protein Effect Treatment Approaches
APC Q1338* loss of function CTNNB1 Inhibitor Tankyrase Inhibitor