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Gene | CDKN2A |
Variant | G23fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A G23fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 23 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). G23fs has not been characterized, however, due to the effects of other truncation mutations downstream of G23 (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 G23fs |
Transcript | NM_000077.5 |
gDNA | chr9:g.(21974761_21974762) |
cDNA | c.(67_66) |
Protein | p.G23fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011517676 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
NM_058197 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
NM_058197.5 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.(21974761_21974762) | c.(67_66) | p.G23fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CDKN2A G23fs | loss of function - predicted | CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor |