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Gene KEAP1
Variant D236H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KEAP1 D236H lies within the BACK domain of the Keap1 protein (UniProt.org). D236H confers a loss of function to the Keap1 protein as demonstrated by loss of Nfe2l2 inhibition leading to nuclear localization of Nfe2l2 in culture (PMID: 17020408), and is associated increased proliferation and migration in culture, tumor growth in animal models, and acquired resistance to tyrosine kinase inhibitors (PMID: 29812969).
Associated Drug Resistance Y
Category Variants Paths

KEAP1 mutant KEAP1 inact mut KEAP1 D236H

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Transcript NM_203500.2
gDNA chr19:g.10492196C>G
cDNA c.706G>C
Protein p.D236H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_012289.3 chr19:g.10492196C>G c.706G>C p.D236H RefSeq GRCh38/hg38
NM_012289 chr19:g.10492196C>G c.706G>C p.D236H RefSeq GRCh38/hg38
XM_005260174 chr19:g.10492196C>G c.706G>C p.D236H RefSeq GRCh38/hg38
XM_011528452.1 chr19:g.10492196C>G c.706G>C p.D236H RefSeq GRCh38/hg38
XM_005260173 chr19:g.10492196C>G c.706G>C p.D236H RefSeq GRCh38/hg38
XM_011528452 chr19:g.10492196C>G c.706G>C p.D236H RefSeq GRCh38/hg38
NM_012289.4 chr19:g.10492196C>G c.706G>C p.D236H RefSeq GRCh38/hg38
NM_203500 chr19:g.10492196C>G c.706G>C p.D236H RefSeq GRCh38/hg38
NM_203500.1 chr19:g.10492196C>G c.706G>C p.D236H RefSeq GRCh38/hg38
NM_203500.2 chr19:g.10492196C>G c.706G>C p.D236H RefSeq GRCh38/hg38
XM_005260173.1 chr19:g.10492196C>G c.706G>C p.D236H RefSeq GRCh38/hg38
XM_005260174.1 chr19:g.10492196C>G c.706G>C p.D236H RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KEAP1 D236H lung non-small cell carcinoma resistant Gefitinib Preclinical - Cell culture Actionable In a preclinical study, the KEAP1 D236H mutation was identified in non-small cell lung cancer cells that acquired resistance to Iressa (gefitinib) in culture (PMID: 29812969). 29812969
KEAP1 D236H lung non-small cell carcinoma resistant Afatinib Preclinical - Cell culture Actionable In a preclinical study, non-small cell lung cancer cells that acquired resistance to Iressa (gefitinib) harbored the KEAP1 D236H mutation and also demonstrated resistance to Gilotrif (afatinib) in culture (PMID: 29812969). 29812969
KEAP1 D236H lung non-small cell carcinoma resistant Osimertinib Preclinical - Cell culture Actionable In a preclinical study, non-small cell lung cancer cells that acquired resistance to Iressa (gefitinib) harbored the KEAP1 D236H mutation and also demonstrated resistance to Tagrisso (osimertinib) in culture (PMID: 29812969). 29812969