Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene APC
Variant T1556Nfs*3
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions APC T1556Nfs*3 indicates a shift in the reading frame starting at amino acid 1556 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T1556Nfs*3 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 T1556fs APC T1556Nfs*3

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.

Transcript NM_000038.6
gDNA chr5:g.112840260dupA
cDNA c.4666dupA
Protein p.T1556Nfs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.2 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001354900.2 chr5:g.112840383_112840384insACCCCTAA c.4666_4667insACCCCTAA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001127510 chr5:g.112840258_112840259insG c.4664_4665insG p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001354902.2 chr5:g.112840534delC c.4667delC p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_000038 chr5:g.112840258_112840259insG c.4664_4665insG p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*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 T1556Nfs*3 desmoid tumor predicted - sensitive Celecoxib + Nirogacestat Case Reports/Case Series Actionable In a clinical case study, addition of Ogsiveo (nirogacestat) to Celecoxib treatment resulted in a reduction in tumor size and stable disease that was ongoing for at least 17 months in a pediatric patient with a desmoid tumor harboring APC T1556Nfs*3 (PMID: 32762028). 32762028