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Gene | KEAP1 |
Variant | R413L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | KEAP1 R413L lies within Kelch repeat 2 of the Keap1 protein (UniProt.org). R413L confers a loss of function to the Keap1 protein as demonstrated by failure to bind and ubiquitinate Ikk-beta (PMID: 19818716), and loss of Nrf2 inhibition leading to increased expression of Nrf2 target genes, colony formation, and cell migration in culture (PMID: 32576270). |
Associated Drug Resistance | |
Category Variants Paths |
KEAP1 mutant KEAP1 inact mut KEAP1 R413L |
Transcript | NM_203500.2 |
gDNA | chr19:g.10491664C>A |
cDNA | c.1238G>T |
Protein | p.R413L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005260174 | chr19:g.10491664C>A | c.1238G>T | p.R413L | RefSeq | GRCh38/hg38 |
NM_012289 | chr19:g.10491664C>A | c.1238G>T | p.R413L | RefSeq | GRCh38/hg38 |
NM_203500.2 | chr19:g.10491664C>A | c.1238G>T | p.R413L | RefSeq | GRCh38/hg38 |
NM_203500 | chr19:g.10491664C>A | c.1238G>T | p.R413L | RefSeq | GRCh38/hg38 |
NM_012289.4 | chr19:g.10491664C>A | c.1238G>T | p.R413L | RefSeq | GRCh38/hg38 |
XM_005260173 | chr19:g.10491664C>A | c.1238G>T | p.R413L | RefSeq | GRCh38/hg38 |
XM_005260174.1 | chr19:g.10491664C>A | c.1238G>T | p.R413L | RefSeq | GRCh38/hg38 |
XM_011528452 | chr19:g.10491664C>A | c.1238G>T | p.R413L | RefSeq | GRCh38/hg38 |
NM_012289.3 | chr19:g.10491664C>A | c.1238G>T | p.R413L | RefSeq | GRCh38/hg38 |
NM_203500.1 | chr19:g.10491664C>A | c.1238G>T | p.R413L | RefSeq | GRCh38/hg38 |
XM_005260173.1 | chr19:g.10491664C>A | c.1238G>T | p.R413L | RefSeq | GRCh38/hg38 |
XM_011528452.1 | chr19:g.10491664C>A | c.1238G>T | p.R413L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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