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Gene | KEAP1 |
Variant | W497L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | KEAP1 W497L lies within Kelch repeat 4 of the Keap1 protein (UniProt.org). W497L results in a loss of Keap1 protein function as indicated by failure to inhibit Nfe2l2 (Nrf2) target gene expression in cell lines (PMID: 27478040), and failure to bind and destabilize Sox9 in cultured cells (PMID: 33173725). |
Associated Drug Resistance | |
Category Variants Paths |
KEAP1 mutant KEAP1 inact mut KEAP1 W497L |
Transcript | NM_203500.2 |
gDNA | chr19:g.10489689C>A |
cDNA | c.1490G>T |
Protein | p.W497L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_012289.3 | chr19:g.10489689C>A | c.1490G>T | p.W497L | RefSeq | GRCh38/hg38 |
XM_011528452 | chr19:g.10489689C>A | c.1490G>T | p.W497L | RefSeq | GRCh38/hg38 |
XM_005260173 | chr19:g.10489689C>A | c.1490G>T | p.W497L | RefSeq | GRCh38/hg38 |
XM_011528452.1 | chr19:g.10489689C>A | c.1490G>T | p.W497L | RefSeq | GRCh38/hg38 |
XM_005260173.1 | chr19:g.10489689C>A | c.1490G>T | p.W497L | RefSeq | GRCh38/hg38 |
NM_012289.4 | chr19:g.10489689C>A | c.1490G>T | p.W497L | RefSeq | GRCh38/hg38 |
NM_203500 | chr19:g.10489689C>A | c.1490G>T | p.W497L | RefSeq | GRCh38/hg38 |
NM_203500.2 | chr19:g.10489689C>A | c.1490G>T | p.W497L | RefSeq | GRCh38/hg38 |
XM_005260174 | chr19:g.10489689C>A | c.1490G>T | p.W497L | RefSeq | GRCh38/hg38 |
NM_203500.1 | chr19:g.10489689C>A | c.1490G>T | p.W497L | RefSeq | GRCh38/hg38 |
XM_005260174.1 | chr19:g.10489689C>A | c.1490G>T | p.W497L | RefSeq | GRCh38/hg38 |
NM_012289 | chr19:g.10489689C>A | c.1490G>T | p.W497L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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