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Gene | KEAP1 |
Variant | P455fs |
Impact List | frameshift |
Protein Effect | loss of function |
Gene Variant Descriptions | KEAP1 P455fs results in a change in the amino acid sequence of the Keap1 protein beginning at aa 455 of 624, likely resulting in premature truncation of the functional protein (UniProt.org). P455fs results in loss of Nfe2l2 inhibition leading to increased Nfe2l2 target gene and protein expression and increased cell survival following irradiation and hydrogen peroxide treatment in culture (PMID: 33071215). |
Associated Drug Resistance | |
Category Variants Paths |
KEAP1 mutant KEAP1 inact mut KEAP1 P455fs |
Transcript | NM_203500.2 |
gDNA | chr19:g.(10489816_10489817) |
cDNA | c.(1363_1362) |
Protein | p.P455fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_012289.3 | chr19:g.(10489816_10489817) | c.(1363_1362) | p.P455fs | RefSeq | GRCh38/hg38 |
XM_011528452.1 | chr19:g.(10489816_10489817) | c.(1363_1362) | p.P455fs | RefSeq | GRCh38/hg38 |
NM_012289.4 | chr19:g.(10489816_10489817) | c.(1363_1362) | p.P455fs | RefSeq | GRCh38/hg38 |
XM_005260173.1 | chr19:g.(10489816_10489817) | c.(1363_1362) | p.P455fs | RefSeq | GRCh38/hg38 |
NM_203500.2 | chr19:g.(10489816_10489817) | c.(1363_1362) | p.P455fs | RefSeq | GRCh38/hg38 |
NM_203500.1 | chr19:g.(10489816_10489817) | c.(1363_1362) | p.P455fs | RefSeq | GRCh38/hg38 |
XM_005260174.1 | chr19:g.(10489816_10489817) | c.(1363_1362) | p.P455fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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