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Gene CDKN2A
Variant I49T
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A I49T lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). I49T retains Cdk4/6 binding ability in cultured cells but confers a loss of function to Cdkn2a as demonstrated by altered subcellular localization (PMID: 10389768) and failure to inhibit cell proliferation and cell cycle progression in culture (PMID: 35001868, PMID: 10389768).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A I49T

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Transcript NM_000077.5
gDNA chr9:g.21974682A>G
cDNA c.146T>C
Protein p.I49T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077.4 chr9:g.21974682A>G c.146T>C p.I49T RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974682A>G c.146T>C p.I49T RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974682A>G c.146T>C p.I49T RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974682A>G c.146T>C p.I49T RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974682A>G c.146T>C p.I49T RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21974682A>G c.146T>C p.I49T RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974682A>G c.146T>C p.I49T RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974682A>G c.146T>C p.I49T RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974682A>G c.146T>C p.I49T RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974682A>G c.146T>C p.I49T 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

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Molecular Profile Protein Effect Treatment Approaches
CDKN2A I49T loss of function