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Gene CDKN2A
Variant R124H
Impact List missense
Protein Effect no effect
Gene Variant Descriptions CDKN2A R124H lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R124H has been reported to have activity similar to wild-type Cdkn2a in in vitro and cell culture assays (PMID: 10491434).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A R124H

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Transcript NM_000077.5
gDNA chr9:g.21970988C>T
cDNA c.371G>A
Protein p.R124H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132.2 chr9:g.21970988C>T c.371G>A p.R124H RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21970988C>T c.371G>A p.R124H RefSeq GRCh38/hg38
XM_011517676 chr9:g.21970988C>T c.371G>A p.R124H RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21970988C>T c.371G>A p.R124H RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21970988C>T c.371G>A p.R124H RefSeq GRCh38/hg38
NM_001195132 chr9:g.21970988C>T c.371G>A p.R124H RefSeq GRCh38/hg38
XM_011517675 chr9:g.21970988C>T c.371G>A p.R124H RefSeq GRCh38/hg38
NM_000077 chr9:g.21970988C>T c.371G>A p.R124H RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21970988C>T c.371G>A p.R124H RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21970988C>T c.371G>A p.R124H RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21970988C>T c.371G>A p.R124H RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21970988C>T c.371G>A p.R124H 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References