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Gene | KEAP1 |
Variant | Q620del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | KEAP1 Q620del results in the deletion of an amino acid of the Keap1 protein at amino acid 620 (UniProt.org). Q620del has been identified in sequencing studies (PMID: 30317074, PMID: 29615460), but has not been biochemically characterized and therefore, its effect on Keap1 protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
KEAP1 mutant KEAP1 Q620del |
Transcript | NM_203500.2 |
gDNA | chr19:g.10486670_10486672delCTG |
cDNA | c.1858_1860delCAG |
Protein | p.Q620del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_203500 | chr19:g.10486670_10486672delCTG | c.1858_1860delCAG | p.Q620del | RefSeq | GRCh38/hg38 |
NM_203500.2 | chr19:g.10486670_10486672delCTG | c.1858_1860delCAG | p.Q620del | RefSeq | GRCh38/hg38 |
NM_012289.4 | chr19:g.10486670_10486672delCTG | c.1858_1860delCAG | p.Q620del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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