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 D1636Gfs*2
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions APC D1636Gfs*2 indicates a shift in the reading frame starting at amino acid 1636 and terminating two residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). D1636Gfs*2 has been identified in sequencing studies (PMID: 36013219), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC D1636fs APC D1636Gfs*2

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.112840500dupG
cDNA c.4906dupG
Protein p.D1636Gfs*2
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.5 chr5:g.112840500dupG c.4906dupG p.D1636Gfs*2 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112840500dupG c.4906dupG p.D1636Gfs*2 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112840500dupG c.4906dupG p.D1636Gfs*2 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112840500dupG c.4906dupG p.D1636Gfs*2 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112840500dupG c.4906dupG p.D1636Gfs*2 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112840500dupG c.4906dupG p.D1636Gfs*2 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112840500dupG c.4906dupG p.D1636Gfs*2 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