Gene Variant Detail

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Gene CDKN2A
Variant E119Q
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CDKN2A E119Q lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). E119Q results in Cdk4/6 binding and cell cycle inhibition similar to wild-type Cdkn2a in cultured cells and inhibits Cdk6 activity similar to wild-type protein in an in vitro kinase assay (PMID: 10491434), and therefore, is predicted to have no effect on Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A E119Q

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Transcript NM_000077.5
gDNA chr9:g.21971004C>G
cDNA c.355G>C
Protein p.E119Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132.1 chr9:g.21971004C>G c.355G>C p.E119Q RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971004C>G c.355G>C p.E119Q RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971004C>G c.355G>C p.E119Q RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971004C>G c.355G>C p.E119Q RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971004C>G c.355G>C p.E119Q RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971004C>G c.355G>C p.E119Q RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971004C>G c.355G>C p.E119Q RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971004C>G c.355G>C p.E119Q 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