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 CDKN2A
Variant V51Sfs*2
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A V51Sfs*2 indicates a shift in the reading frame starting at amino acid 51 and terminating 2 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). V51Sfs*2 has not been characterized, however, due to the effects of other truncation mutations downstream of V51 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A V51Sfs*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_000077.5
gDNA chr9:g.21971209delC
cDNA c.151delG
Protein p.V51Sfs*2
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675.3 chr9:g.21971209delC c.151delG p.V51Sfs*2 RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971209delC c.151delG p.V51Sfs*2 RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971209delC c.151delG p.V51Sfs*2 RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971209delC c.151delG p.V51Sfs*2 RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971209delC c.151delG p.V51Sfs*2 RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971209delC c.151delG p.V51Sfs*2 RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971209delC c.151delG p.V51Sfs*2 RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974677_21974678insTAGCT c.150_151insAGCTA p.V51Sfs*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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries