KEAP1 R272L
Gene Variant Detail

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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

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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
NM_203500.1 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
XM_011528452.1 chr19:g.10492087C>A c.815G>T p.R272L RefSeq GRCh38/hg38
XM_005260173.1 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_203500.2 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

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KEAP1 mutant lung squamous cell carcinoma predicted - sensitive Sapanisertib Case Reports/Case Series Actionable In a Phase II trial, Sapanisertib (MLN0128) treatment resulted in a disease control rate of 66% (2/3, 2 stable disease) in lung squamous cell carcinoma patients harboring KEAP1 mutations (J Clin Oncol 37, 2019 (suppl; abstr 9085)). detail...
KEAP1 mutant lung adenocarcinoma not predictive unspecified PD-L1 antibody Clinical Study - Cohort Actionable In a clinical study, lung adenocarcinoma patients harboring a KEAP1 mutation demonstrated a shorter progression free survival compared to patients with wild-type KEAP1 when treated with an unspecified PD-L1 antibody, but when compared to other treatments, all were associated with shorter progression free survival (PMID: 32312757). 32312757
KEAP1 mutant lung adenocarcinoma not predictive unspecified PD-1 antibody Clinical Study - Cohort Actionable In a clinical study, lung adenocarcinoma patients harboring a KEAP1 mutation demonstrated a shorter progression free survival compared to patients with wild-type KEAP1 when treated with an unspecified PD-1 antibody, but when compared to other treatments, all were associated with shorter progression free survival (PMID: 32312757). 32312757
KEAP1 mutant lung non-squamous non-small cell carcinoma predicted - sensitive Camrelizumab + Rivoceranib Phase Ib/II Emerging In a Phase Ib/II trial, non-squamous NSCLC patients harboring KEAP1 and/or STK11 mutations (n=14) demonstrated an improved 12-month survival rate (85.1% vs 53.1%; p=0.01), and a trend towards improved objective response rate (42.9% vs 28.1%; p=0.33), disease control rate (92.9% vs 65.6%, p=0.053), and median progression-free survival (9.4 vs 5.3 months; p=0.64) compared to wild-type KEAP1/STK11 patients (n=32) treated with Camrelizumab (SHR-1210) plus Rivoceranib (apatinib) (PMID: 33323401; NCT03083041). 33323401
KEAP1 mutant lung non-small cell carcinoma predicted - resistant Radiotherapy Clinical Study - Cohort Actionable In a clinical study, non-small cell lung cancer patients harboring KEAP1 or NFE2L2 mutations (n=9) demonstrated higher incidence of local recurrence at 30-months after radiotherapy (70% vs 18%, p<0.003) compared to KEAP1/NFE2L2 wild-type patients (n=33) (PMID: 27663899). 27663899
KEAP1 mutant lung adenocarcinoma sensitive Radiotherapy + Telaglenastat Preclinical - Cell culture Actionable In a preclinical study, Telaglenstat (CB-839) increased sensitivity of a non-small cell lung cancer cell line harboring a KEAP1 mutation to radiotherapy in culture (PMID: 33071215). 33071215