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Gene CDKN2A
Variant L130V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A L130V lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). L130V has been identified in sequencing studies (PMID: 21462282), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A L130V

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Transcript NM_000077.5
gDNA chr9:g.21970971G>C
cDNA c.388C>G
Protein p.L130V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675.2 chr9:g.21970971G>C c.388C>G p.L130V RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21970971G>C c.388C>G p.L130V RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21970971G>C c.388C>G p.L130V RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21970971G>C c.388C>G p.L130V RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21970971G>C c.388C>G p.L130V RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21970971G>C c.388C>G p.L130V RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21970971G>C c.388C>G p.L130V RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21970971G>C c.388C>G p.L130V 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.
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Molecular Profile Protein Effect Treatment Approaches
CDKN2A L130V unknown