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 Q1338*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions APC Q1338* results in a premature truncation of the Apc protein at amino acid 1338 of 2843 (UniProt.org). Q1338* 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 Q1338*

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.112839606C>T
cDNA c.4012C>T
Protein p.Q1338*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354897.1 chr5:g.112839576C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354906.1 chr5:g.112840455C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001407470.1 chr5:g.112840455C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354902.2 chr5:g.112839879C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354906.2 chr5:g.112840455C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.112839576C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_001354902.1 chr5:g.112839879C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839606C>T c.4012C>T p.Q1338* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839606C>T c.4012C>T p.Q1338* 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 Q1338* colorectal cancer sensitive JW67 Preclinical Actionable In a preclinical study, JW67 inhibited Wnt signaling and decreased proliferation of colorectal cancer cells harboring APC Q1338* in culture (PMID: 21199802). 21199802
APC Q1338* colorectal cancer sensitive JW74 Preclinical Actionable In a preclinical study, JW74 inhibited Wnt signaling and decreased growth of colorectal cancer cells harboring APC Q1338* in culture and in xenograft models (PMID: 21199802). 21199802
APC Q1338* colorectal cancer sensitive TASIN-1 Preclinical - Cell culture Actionable In a preclinical study, TASIN-1 inhibited survival of colorectal cancer cell lines harboring APC Q1338* in culture (PMID: 27798265). 27798265
APC Q1338* colorectal cancer sensitive STP1002 Preclinical - Cell culture Actionable In a preclinical study, STP1002 inhibited Wnt/beta-catenin signaling and colony formation in colorectal cancer cell lines harboring APC Q1338* in culture (PMID: 35849876). 35849876