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 A1470T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC A1470T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1470T has been identified in sequencing studies (PMID: 8242071, PMID: 29523763), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2023).
Associated Drug Resistance
Category Variants Paths

APC mutant APC A1470T

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_000038.5
gDNA chr5:g.112840002G>A
cDNA c.4408G>A
Protein p.A1470T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.1 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_000038 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001354906.1 chr5:g.112840851G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001127510 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001354897.1 chr5:g.112839972G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112840002G>A c.4408G>A p.A1470T 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 mutant desmoid tumor not applicable N/A Guideline Diagnostic APC mutations aid the diagnosis of desmoid tumor (NCCN.org). detail...
APC mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Familial adenomatous polyposis results from germline mutations in the APC gene, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
APC mutant medulloblastoma not applicable N/A Guideline Prognostic WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org). detail...
APC mutant colorectal cancer no benefit G-631 Preclinical - Cell line xenograft Actionable In a preclinical study, G-631 inhibited Wnt pathway signaling in colorectal cancer cell line xenograft models harboring an APC mutation, but demonstrated little anti-tumor activity and led to intestinal toxicity (PMID: 26692561). 26692561
APC mutant colorectal cancer predicted - sensitive K-756 Preclinical Actionable In a preclinical study, K-756 inhibited Wnt signaling and reduced growth of 2/3 tested APC-mutant colorectal cancer cell lines in culture (PMID: 27196752). 27196752
APC mutant colon adenoma predicted - sensitive TetMYB Preclinical Actionable In a preclinical study, TetMYB treatment resulted in improved median survival compared to control (356 vs 183 days) in APC-driven mouse models of colon adenoma (Gastroenterology, Volume 154, Issue 6, Supplement 1, May 2018, Pages S-1269). detail...
APC mutant colorectal cancer sensitive JW74 Preclinical Actionable In a preclinical study, JW74 reduced tumor formation and growth in a mouse model of colorectal cancer harboring an APC mutation (PMID: 21199802). 21199802