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 L16fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A L16fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 16 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). L16fs has not been characterized, however, due to the effects of other truncation mutations downstream of L16 (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 L16fs

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.(21974782_21974783)
cDNA c.(46_45)
Protein p.L16fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077.4 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
NM_058197.5 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
NM_058197.4 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21974782_21974783) c.(46_45) p.L16fs RefSeq GRCh38/hg38
NM_058197 chr9:g.(21974782_21974783) c.(46_45) p.L16fs 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