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| Gene | CDKN2A |
| Variant | L31R |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | CDKN2A L31R lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). L31R confers a loss of function to the Cdkn2a protein as demonstrated by the inability to inhibit kinase activity of the Cdk7 complex in culture (PMID: 11003668). |
| Associated Drug Resistance | |
| Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A L31R |
| Transcript | NM_000077.5 |
| gDNA | chr9:g.21974736A>C |
| cDNA | c.92T>G |
| Protein | p.L31R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011517675.3 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| XM_011517676.2 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| NM_000077.4 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| NM_058197 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| NM_058197.4 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| NM_000077 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| XM_011517675.2 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| NM_001195132.1 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| NM_058197.5 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| NM_001195132.2 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| XM_011517675 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| NM_000077.5 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| XM_011517676.3 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| NM_001195132 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| XM_011517676 | chr9:g.21974736A>C | c.92T>G | p.L31R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| CDKN2A L31R | loss of function |