APC E1295*
Gene Variant Detail

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Gene APC
Variant E1295*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC E1295* results in a premature truncation of the Apc protein at amino acid 1295 of 2843 (UniProt.org). E1295* has not been characterized, however, due to the effects of other truncation mutations downstream of E1295 (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 E1295*

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Transcript NM_000038.6
gDNA chr5:g.112839477G>T
cDNA c.3883G>T
Protein p.E1295*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.112839477G>T c.3883G>T p.E1295* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839477G>T c.3883G>T p.E1295* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839477G>T c.3883G>T p.E1295* RefSeq GRCh38/hg38
NM_000038 chr5:g.112839477G>T c.3883G>T p.E1295* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839477G>T c.3883G>T p.E1295* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839477G>T c.3883G>T p.E1295* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839477G>T c.3883G>T p.E1295* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839477G>T c.3883G>T p.E1295* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839477G>T c.3883G>T p.E1295* 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

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Molecular Profile Protein Effect Treatment Approaches
APC E1295* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R499* APC E1295*