APC I1287Rfs*3 - Gene Variant Detail

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Gene APC
Variant I1287Rfs*3
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC I1287Rfs*3 indicates a shift in the reading frame starting at amino acid 1287 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). I1287Rfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of I1287 (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 I1287Rfs*3

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Transcript NM_000038.6
gDNA chr5:g.112839454_112839455delTA
cDNA c.3860_3861delTA
Protein p.I1287Rfs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.2 chr5:g.112839454_112839455delTA c.3860_3861delTA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001407446.1 chr5:g.112839369_112839370insGCCCATAA c.3859_3860insGCCCATAA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839454_112839455delTA c.3860_3861delTA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001407449.1 chr5:g.112839399_112839400insGCCCATAA c.3859_3860insGCCCATAA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001407448.1 chr5:g.112839399_112839400insGCCCATAA c.3859_3860insGCCCATAA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839454_112839455delTA c.3860_3861delTA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001407447.1 chr5:g.112839399_112839400insGCCCATAA c.3859_3860insGCCCATAA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839454_112839455delTA c.3860_3861delTA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001407449.1 chr5:g.112839399_112839400insGCCCATAA c.3859_3860insGCCCATAA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001354896.2 chr5:g.112839399_112839400insGCCCATAA c.3859_3860insGCCCATAA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839454_112839455delTA c.3860_3861delTA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001407446.1 chr5:g.112839369_112839370insGCCCATAA c.3859_3860insGCCCATAA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001354896.2 chr5:g.112839399_112839400insGCCCATAA c.3859_3860insGCCCATAA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839454_112839455delTA c.3860_3861delTA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001407448.1 chr5:g.112839399_112839400insGCCCATAA c.3859_3860insGCCCATAA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839454_112839455delTA c.3860_3861delTA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839454_112839455delTA c.3860_3861delTA p.I1287Rfs*3 RefSeq GRCh38/hg38
NM_001407447.1 chr5:g.112839399_112839400insGCCCATAA c.3859_3860insGCCCATAA p.I1287Rfs*3 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
APC I1287Rfs*3 colorectal cancer sensitive G007-LK Preclinical - Cell culture Actionable In a preclinical study, G007-LK inhibited viability of a patient-derived colorectal cancer cell line harboring APC I1287Rfs*3 in culture (PMID: 37968472). 37968472