Gene Variant Detail

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Gene CDKN2A
Variant H98P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A H98P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H98P results in decreased inhibition of cell-cycle arrest and cyclin-D1/Cdk4 kinase activity by Cdkn2a in cell culture (PMID: 7777061).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A H98P

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Transcript NM_000077.5
gDNA chr9:g.21971066T>G
cDNA c.293A>C
Protein p.H98P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077.4 chr9:g.21971066T>G c.293A>C p.H98P RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971066T>G c.293A>C p.H98P RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971066T>G c.293A>C p.H98P RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971066T>G c.293A>C p.H98P RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971066T>G c.293A>C p.H98P RefSeq GRCh38/hg38
NM_000077 chr9:g.21971066T>G c.293A>C p.H98P RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971066T>G c.293A>C p.H98P RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971066T>G c.293A>C p.H98P RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971066T>G c.293A>C p.H98P RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971066T>G c.293A>C p.H98P RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971066T>G c.293A>C p.H98P RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971066T>G c.293A>C p.H98P 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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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries