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@genomenon.com

Gene APC
Variant S1197*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC S1197* results in a premature truncation of the Apc protein at amino acid 1197 of 2843 (UniProt.org). S1197* has not been characterized, however, due to the effects of other truncation mutations downstream of S1197 (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 S1197*

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_001127511.3
gDNA chr5:g.112839237_112839239delAGTinsTGA
cDNA c.3589_3591delAGTinsTGA
Protein p.S1197*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354898.1 chr5:g.112839259C>A c.3590C>A p.S1197* RefSeq GRCh38/hg38
NM_001407458.1 chr5:g.112839487_112839488delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38
NM_001127511.3 chr5:g.112839237_112839239delAGTinsTGA c.3589_3591delAGTinsTGA p.S1197* RefSeq GRCh38/hg38
NM_001407460.1 chr5:g.112839487_112839488delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38
NM_001407459.1 chr5:g.112839487_112839488delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38
NM_001127511.2 chr5:g.112839237_112839239delAGTinsTGA c.3589_3591delAGTinsTGA p.S1197* RefSeq GRCh38/hg38
NM_001354900.2 chr5:g.112839306_112839308delAGTinsTGA c.3589_3591delAGTinsTGA p.S1197* RefSeq GRCh38/hg38
NM_001354903.1 chr5:g.112839487_112839488delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38
NM_001354900.1 chr5:g.112839306_112839308delAGTinsTGA c.3589_3591delAGTinsTGA p.S1197* RefSeq GRCh38/hg38
NM_001127511 chr5:g.112839237_112839239delAGTinsTGA c.3589_3591delAGTinsTGA p.S1197* RefSeq GRCh38/hg38
NM_001354898.2 chr5:g.112839259C>A c.3590C>A p.S1197* RefSeq GRCh38/hg38
NM_001407472.1 chr5:g.112840336_112840337delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38
NM_001407471.1 chr5:g.112840336_112840337delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38
NM_001354903.2 chr5:g.112839487_112839488delCTinsAA c.3590_3591delCTinsAA p.S1197* 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 Protein Effect Treatment Approaches
APC S1197* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1197* APC S1278*