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Gene | KEAP1 |
Variant | R601L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KEAP1 R601L lies within Kelch repeat 6 of the Keap1 protein (UniProt.org). R601L results in Nfe2l2 binding affinity similar to wild-type Keap1 in an in vitro assay (PMID: 34229009), but has not been fully biochemically characterized and therefore, its effect on Keap1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
KEAP1 mutant KEAP1 R601L |
Transcript | NM_203500.2 |
gDNA | chr19:g.10486725C>A |
cDNA | c.1802G>T |
Protein | p.R601L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_012289 | chr19:g.10486725C>A | c.1802G>T | p.R601L | RefSeq | GRCh38/hg38 |
NM_012289.3 | chr19:g.10486725C>A | c.1802G>T | p.R601L | RefSeq | GRCh38/hg38 |
NM_203500 | chr19:g.10486725C>A | c.1802G>T | p.R601L | RefSeq | GRCh38/hg38 |
NM_203500.1 | chr19:g.10486725C>A | c.1802G>T | p.R601L | RefSeq | GRCh38/hg38 |
XM_005260173.1 | chr19:g.10486725C>A | c.1802G>T | p.R601L | RefSeq | GRCh38/hg38 |
NM_203500.2 | chr19:g.10486725C>A | c.1802G>T | p.R601L | RefSeq | GRCh38/hg38 |
XM_005260174 | chr19:g.10486725C>A | c.1802G>T | p.R601L | RefSeq | GRCh38/hg38 |
XM_005260173 | chr19:g.10486725C>A | c.1802G>T | p.R601L | RefSeq | GRCh38/hg38 |
XM_011528452.1 | chr19:g.10486725C>A | c.1802G>T | p.R601L | RefSeq | GRCh38/hg38 |
NM_012289.4 | chr19:g.10486725C>A | c.1802G>T | p.R601L | RefSeq | GRCh38/hg38 |
XM_005260174.1 | chr19:g.10486725C>A | c.1802G>T | p.R601L | RefSeq | GRCh38/hg38 |
XM_011528452 | chr19:g.10486725C>A | c.1802G>T | p.R601L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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