CDKN2A V126D
Gene Variant Detail

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Gene CDKN2A
Variant V126D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A V126D lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). V126D confers a loss of function to the Cdkn2a protein as demonstrated by reduced Cdk4 binding in an in vitro assay (PMID: 11595726), failure to inhibit cell proliferation (PMID: 11595726, PMID: 35001868) and cell cycle progression in culture (PMID: 35001868), and failure to inhibit proliferation in a high-throughput cell culture assay (PMID: 40238651).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A V126D

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Transcript NM_000077.5
gDNA chr9:g.21970982A>T
cDNA c.377T>A
Protein p.V126D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077 chr9:g.21970982A>T c.377T>A p.V126D RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21970982A>T c.377T>A p.V126D RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21970982A>T c.377T>A p.V126D RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21970982A>T c.377T>A p.V126D RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21970982A>T c.377T>A p.V126D RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21970982A>T c.377T>A p.V126D RefSeq GRCh38/hg38
XM_011517675 chr9:g.21970982A>T c.377T>A p.V126D RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21970982A>T c.377T>A p.V126D RefSeq GRCh38/hg38
XM_011517676 chr9:g.21970982A>T c.377T>A p.V126D RefSeq GRCh38/hg38
NM_001195132 chr9:g.21970982A>T c.377T>A p.V126D RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21970982A>T c.377T>A p.V126D RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21970982A>T c.377T>A p.V126D 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References