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| Gene | CDKN2A |
| Variant | R112P |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CDKN2A R112P lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R112P has been identified in sequencing studies (PMID: 29279705, PMID: 8895759), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
CDKN2A mutant CDKN2A R112P |
| Transcript | NM_000077.5 |
| gDNA | chr9:g.21971024C>G |
| cDNA | c.335G>C |
| Protein | p.R112P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011517676 | chr9:g.21971024C>G | c.335G>C | p.R112P | RefSeq | GRCh38/hg38 |
| NM_000077.4 | chr9:g.21971024C>G | c.335G>C | p.R112P | RefSeq | GRCh38/hg38 |
| NM_000077 | chr9:g.21971024C>G | c.335G>C | p.R112P | RefSeq | GRCh38/hg38 |
| XM_011517676.2 | chr9:g.21971024C>G | c.335G>C | p.R112P | RefSeq | GRCh38/hg38 |
| XM_011517676.3 | chr9:g.21971024C>G | c.335G>C | p.R112P | RefSeq | GRCh38/hg38 |
| XM_011517675 | chr9:g.21971024C>G | c.335G>C | p.R112P | RefSeq | GRCh38/hg38 |
| XM_011517675.3 | chr9:g.21971024C>G | c.335G>C | p.R112P | RefSeq | GRCh38/hg38 |
| NM_001195132 | chr9:g.21971024C>G | c.335G>C | p.R112P | RefSeq | GRCh38/hg38 |
| NM_001195132.1 | chr9:g.21971024C>G | c.335G>C | p.R112P | RefSeq | GRCh38/hg38 |
| XM_011517675.2 | chr9:g.21971024C>G | c.335G>C | p.R112P | RefSeq | GRCh38/hg38 |
| NM_000077.5 | chr9:g.21971024C>G | c.335G>C | p.R112P | RefSeq | GRCh38/hg38 |
| NM_001195132.2 | chr9:g.21971024C>G | c.335G>C | p.R112P | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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