CDKN2A G23D
Gene Variant Detail

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Gene CDKN2A
Variant G23D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A G23D lies within the first ANK repeat of the Cdkn2a protein (UniProt.org). G23D results in a loss of Cdkn2a protein function, evidenced by loss of CDK4 binding, reduced inhibition of pRb phosphorylation, and impaired cell cycle arrest in cultured cells (PMID: 19712690, PMID: 19260062).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A G23D

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Transcript NM_000077.5
gDNA chr9:g.21974760C>T
cDNA c.68G>A
Protein p.G23D
Source Database RefSeq
Genome Build 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.