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Gene CDKN2A
Variant G45fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A G45fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 45 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). G45fs has not been characterized, however, due to the effects of other truncation mutations downstream of G45 (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 G45fs

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Transcript NM_000077.5
gDNA chr9:g.(21974695_21974696)
cDNA c.(133_132)
Protein p.G45fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132.2 chr9:g.(21974695_21974696) c.(133_132) p.G45fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21974695_21974696) c.(133_132) p.G45fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21974695_21974696) c.(133_132) p.G45fs RefSeq GRCh38/hg38
NM_058197.5 chr9:g.(21974695_21974696) c.(133_132) p.G45fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21974695_21974696) c.(133_132) p.G45fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21974695_21974696) c.(133_132) p.G45fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21974695_21974696) c.(133_132) p.G45fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21974695_21974696) c.(133_132) p.G45fs RefSeq GRCh38/hg38
NM_058197.4 chr9:g.(21974695_21974696) c.(133_132) p.G45fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21974695_21974696) c.(133_132) p.G45fs 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 )
  • 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")

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