CDKN2A L130R
Gene Variant Detail

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Gene CDKN2A
Variant L130R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A L130R lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). L130R has been identified in sequencing studies (PMID: 22156295, PMID: 25303977), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jan 2025).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A L130R

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Transcript NM_000077.5
gDNA chr9:g.21970970A>C
cDNA c.389T>G
Protein p.L130R
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.