Gene Variant Detail

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Gene CDKN2A
Variant N71I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A N71I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). N71I confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, loss of binding to Cdk4 and Cdk6, and elevated Ki67 indicative of increased proliferation in cell culture (PMID: 20340136).
Associated Drug Resistance

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Transcript NM_000077
gDNA chr9:g.21971147T>A
cDNA c.212A>T
Protein p.N71I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132 chr9:g.21971147T>A c.212A>T p.N71I RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971147T>A c.212A>T p.N71I RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971147T>A c.212A>T p.N71I RefSeq GRCh38/hg38
NM_000077 chr9:g.21971147T>A c.212A>T p.N71I RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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
CDKN2A N71I loss of function
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References