Gene Variant Detail

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Gene KEAP1
Variant G419W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KEAP1 G419W lies within Kelch repeat 2 of the Keap1 protein (UniProt.org). G419W results in a loss of Keap1 protein function as indicated by failure to inhibit Nfe2l2 (Nrf2) target gene expression in cell lines in culture (PMID: 27478040).
Associated Drug Resistance
Category Variants Paths

KEAP1 mutant KEAP1 inact mut KEAP1 G419W

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Transcript NM_203500.2
gDNA chr19:g.10491647C>A
cDNA c.1255G>T
Protein p.G419W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_203500 chr19:g.10491647C>A c.1255G>T p.G419W RefSeq GRCh38/hg38
NM_203500.1 chr19:g.10491647C>A c.1255G>T p.G419W RefSeq GRCh38/hg38
NM_203500.2 chr19:g.10491647C>A c.1255G>T p.G419W RefSeq GRCh38/hg38
NM_012289.3 chr19:g.10491647C>A c.1255G>T p.G419W RefSeq GRCh38/hg38
XM_011528452 chr19:g.10491647C>A c.1255G>T p.G419W RefSeq GRCh38/hg38
XM_005260174.1 chr19:g.10491647C>A c.1255G>T p.G419W RefSeq GRCh38/hg38
NM_012289 chr19:g.10491647C>A c.1255G>T p.G419W RefSeq GRCh38/hg38
XM_011528452.1 chr19:g.10491647C>A c.1255G>T p.G419W RefSeq GRCh38/hg38
XM_005260173.1 chr19:g.10491647C>A c.1255G>T p.G419W RefSeq GRCh38/hg38
NM_012289.4 chr19:g.10491647C>A c.1255G>T p.G419W RefSeq GRCh38/hg38
XM_005260173 chr19:g.10491647C>A c.1255G>T p.G419W RefSeq GRCh38/hg38
XM_005260174 chr19:g.10491647C>A c.1255G>T p.G419W RefSeq GRCh38/hg38

Filtering

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Sorting

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