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| Gene | KEAP1 |
| Variant | R272L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KEAP1 R272L lies within the BACK domain of the Keap1 protein (UniProt.org). R272L has been identified in sequencing studies (PMID: 31828882), but has not been biochemically characterized and therefore, its effect on Keap1 protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
KEAP1 mutant KEAP1 R272L |
| Transcript | NM_203500.2 |
| gDNA | chr19:g.10492087C>A |
| cDNA | c.815G>T |
| Protein | p.R272L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005260173.1 | chr19:g.10492087C>A | c.815G>T | p.R272L | RefSeq | GRCh38/hg38 |
| XM_005260174.1 | chr19:g.10492087C>A | c.815G>T | p.R272L | RefSeq | GRCh38/hg38 |
| NM_012289.4 | chr19:g.10492087C>A | c.815G>T | p.R272L | RefSeq | GRCh38/hg38 |
| NM_203500.1 | chr19:g.10492087C>A | c.815G>T | p.R272L | RefSeq | GRCh38/hg38 |
| XM_011528452.1 | chr19:g.10492087C>A | c.815G>T | p.R272L | RefSeq | GRCh38/hg38 |
| NM_203500.2 | chr19:g.10492087C>A | c.815G>T | p.R272L | RefSeq | GRCh38/hg38 |
| NM_012289.3 | chr19:g.10492087C>A | c.815G>T | p.R272L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KEAP1 R272L | unknown |