Gene Variant Detail

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Gene APC
Variant L795Sfs*25
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC L795Sfs*25 indicates a shift in the reading frame starting at amino acid 795 and terminating 25 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L795Sfs*25 has not been characterized, however, due to the effects of other truncation mutations downstream of L795 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC L795Sfs*25

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Transcript NM_000038.5
gDNA chr5:g.112837977delC
cDNA c.2383delC
Protein p.L795Sfs*25
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.1 chr5:g.112837977delC c.2383delC p.L795Sfs*25 RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112837977delC c.2383delC p.L795Sfs*25 RefSeq GRCh38/hg38
NM_000038 chr5:g.112837977delC c.2383delC p.L795Sfs*25 RefSeq GRCh38/hg38
NM_001127510 chr5:g.112837977delC c.2383delC p.L795Sfs*25 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112837977delC c.2383delC p.L795Sfs*25 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries