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Gene | KEAP1 |
Variant | G417K |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | KEAP1 G417K lies within Kelch repeat 2 of the Keap1 protein (UniProt.org). G417K results in a loss of NRF2-mediated repression compared to wild-type Keap1 in an in vitro assay (PMID: 30150714), and therefore, is predicted to lead to a loss of Keap1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KEAP1 mutant KEAP1 inact mut KEAP1 G417K |
Transcript | NM_203500.2 |
gDNA | chr19:g.10491652_10491653delGGinsAA |
cDNA | c.1249_1250delGGinsAA |
Protein | p.G417K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_012289.3 | chr19:g.10491652_10491653delGGinsAA | c.1249_1250delGGinsAA | p.G417K | RefSeq | GRCh38/hg38 |
NM_203500.2 | chr19:g.10491652_10491653delGGinsAA | c.1249_1250delGGinsAA | p.G417K | RefSeq | GRCh38/hg38 |
NM_203500.1 | chr19:g.10491652_10491653delGGinsAA | c.1249_1250delGGinsAA | p.G417K | RefSeq | GRCh38/hg38 |
NM_012289.4 | chr19:g.10491652_10491653delGGinsAA | c.1249_1250delGGinsAA | p.G417K | RefSeq | GRCh38/hg38 |
XM_005260174 | chr19:g.10491652_10491653delCCinsTT | c.1249_1250delGGinsAA | p.G417K | RefSeq | GRCh38/hg38 |
XM_005260174.1 | chr19:g.10491652_10491653delGGinsAA | c.1249_1250delGGinsAA | p.G417K | RefSeq | GRCh38/hg38 |
XM_011528452 | chr19:g.10491652_10491653delCCinsTT | c.1249_1250delGGinsAA | p.G417K | RefSeq | GRCh38/hg38 |
XM_005260173.1 | chr19:g.10491652_10491653delGGinsAA | c.1249_1250delGGinsAA | p.G417K | RefSeq | GRCh38/hg38 |
NM_203500 | chr19:g.10491652_10491653delCCinsTT | c.1249_1250delGGinsAA | p.G417K | RefSeq | GRCh38/hg38 |
NM_012289 | chr19:g.10491652_10491653delCCinsTT | c.1249_1250delGGinsAA | p.G417K | RefSeq | GRCh38/hg38 |
XM_011528452.1 | chr19:g.10491652_10491653delGGinsAA | c.1249_1250delGGinsAA | p.G417K | RefSeq | GRCh38/hg38 |
XM_005260173 | chr19:g.10491652_10491653delCCinsTT | c.1249_1250delGGinsAA | p.G417K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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