CDKN2A P48L - Gene Variant Detail

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Gene CDKN2A
Variant P48L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A P48L lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). P48L confers a loss of function to the Cdkn2a protein as demonstrated by loss of cell cycle control (PMID: 10491434), and decreased Cdk4/6 binding (PMID: 10498896).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A P48L

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Transcript NM_000077.5
gDNA chr9:g.21974685G>A
cDNA c.143C>T
Protein p.P48L
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.