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| Gene | CDKN2A |
| Variant | V115L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CDKN2A V115L lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). V115L suppresses IL3-independent growth similar to wild-type Cdkn2a in BCR-ABL1-expressing cells in culture (PMID: 34369425), but has not been individually characterized and therefore, its effect on Cdkn2a protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
CDKN2A mutant CDKN2A V115L |
| Transcript | NM_000077.5 |
| gDNA | chr9:g.21971016C>G |
| cDNA | c.343G>C |
| Protein | p.V115L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011517676.3 | chr9:g.21971016C>G | c.343G>C | p.V115L | RefSeq | GRCh38/hg38 |
| NM_000077.4 | chr9:g.21971016C>G | c.343G>C | p.V115L | RefSeq | GRCh38/hg38 |
| NM_001195132.1 | chr9:g.21971016C>G | c.343G>C | p.V115L | RefSeq | GRCh38/hg38 |
| XM_011517676.2 | chr9:g.21971016C>G | c.343G>C | p.V115L | RefSeq | GRCh38/hg38 |
| XM_011517675.2 | chr9:g.21971016C>G | c.343G>C | p.V115L | RefSeq | GRCh38/hg38 |
| NM_000077.5 | chr9:g.21971016C>G | c.343G>C | p.V115L | RefSeq | GRCh38/hg38 |
| NM_001195132.2 | chr9:g.21971016C>G | c.343G>C | p.V115L | RefSeq | GRCh38/hg38 |
| XM_011517675.3 | chr9:g.21971016C>G | c.343G>C | p.V115L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| CDKN2A V115L | unknown |