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Gene APC
Variant E1295fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC E1295fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1295 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1295fs 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 E1295fs

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Transcript NM_000038.6
gDNA chr5:g.(112839476_112839477)
cDNA c.(3883_3882)
Protein p.E1295fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407450.1 chr5:g.(112839476_112839477) c.(3883_3882) p.E1295fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112839476_112839477) c.(3883_3882) p.E1295fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112839476_112839477) c.(3883_3882) p.E1295fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112839476_112839477) c.(3883_3882) p.E1295fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839476_112839477) c.(3883_3882) p.E1295fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112839476_112839477) c.(3883_3882) p.E1295fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112839476_112839477) c.(3883_3882) p.E1295fs 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 E1295fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor