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Gene KEAP1
Variant G430C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KEAP1 G430C lies within Kelch repeat 3 of the Keap1 protein (UniProt.org). G430C confers a loss of function to the Keap1 protein as demonstrated by failure to bind and ubiquitinate Ikk-beta (PMID: 19818716) and impaired Nrf2 binding and cytosolic sequestration, resulting in increased Nrf2 transcriptional activity in cultured cells (PMID: 16507366), and inability to repress Nrf2 activity in mouse models (PMID: 21177379).
Associated Drug Resistance
Category Variants Paths

KEAP1 mutant KEAP1 inact mut KEAP1 G430C

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Transcript NM_203500.2
gDNA chr19:g.10491614C>A
cDNA c.1288G>T
Protein p.G430C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005260173 chr19:g.10491614C>A c.1288G>T p.G430C RefSeq GRCh38/hg38
XM_005260174 chr19:g.10491614C>A c.1288G>T p.G430C RefSeq GRCh38/hg38
NM_012289.3 chr19:g.10491614C>A c.1288G>T p.G430C RefSeq GRCh38/hg38
XM_011528452.1 chr19:g.10491614C>A c.1288G>T p.G430C RefSeq GRCh38/hg38
NM_203500 chr19:g.10491614C>A c.1288G>T p.G430C RefSeq GRCh38/hg38
XM_005260173.1 chr19:g.10491614C>A c.1288G>T p.G430C RefSeq GRCh38/hg38
NM_203500.1 chr19:g.10491614C>A c.1288G>T p.G430C RefSeq GRCh38/hg38
XM_011528452 chr19:g.10491614C>A c.1288G>T p.G430C RefSeq GRCh38/hg38
NM_203500.2 chr19:g.10491614C>A c.1288G>T p.G430C RefSeq GRCh38/hg38
XM_005260174.1 chr19:g.10491614C>A c.1288G>T p.G430C RefSeq GRCh38/hg38
NM_012289.4 chr19:g.10491614C>A c.1288G>T p.G430C RefSeq GRCh38/hg38
NM_012289 chr19:g.10491614C>A c.1288G>T p.G430C RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References