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Gene CDKN2A
Variant R24fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A R24fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 24 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). R24fs has not been characterized, however, due to the effects of other truncation mutations downstream of R24 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A R24fs

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Transcript NM_000077.5
gDNA chr9:g.(21974758_21974759)
cDNA c.(70_69)
Protein p.R24fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132.1 chr9:g.(21974758_21974759) c.(70_69) p.R24fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21974758_21974759) c.(70_69) p.R24fs RefSeq GRCh38/hg38
NM_058197.4 chr9:g.(21974758_21974759) c.(70_69) p.R24fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21974758_21974759) c.(70_69) p.R24fs RefSeq GRCh38/hg38
NM_058197.5 chr9:g.(21974758_21974759) c.(70_69) p.R24fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21974758_21974759) c.(70_69) p.R24fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21974758_21974759) c.(70_69) p.R24fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21974758_21974759) c.(70_69) p.R24fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21974758_21974759) c.(70_69) p.R24fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21974758_21974759) c.(70_69) p.R24fs RefSeq GRCh38/hg38

Filtering

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  • 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")

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