Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | KEAP1 |
Variant | D236V |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | KEAP1 D236V lies within the BACK domain of the Keap1 protein (UniProt.org). D236V results in a similar decrease in Nfe2l2 target gene expression and reduction in cell survival following irradiation and hydrogen peroxide treatment to wild-type Keap1 in culture (PMID: 33071215). |
Associated Drug Resistance | |
Category Variants Paths |
KEAP1 mutant KEAP1 D236V |
Transcript | NM_203500.2 |
gDNA | chr19:g.10492195T>A |
cDNA | c.707A>T |
Protein | p.D236V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_203500.1 | chr19:g.10492195T>A | c.707A>T | p.D236V | RefSeq | GRCh38/hg38 |
XM_005260174.1 | chr19:g.10492195T>A | c.707A>T | p.D236V | RefSeq | GRCh38/hg38 |
NM_012289.3 | chr19:g.10492195T>A | c.707A>T | p.D236V | RefSeq | GRCh38/hg38 |
NM_203500.2 | chr19:g.10492195T>A | c.707A>T | p.D236V | RefSeq | GRCh38/hg38 |
XM_011528452.1 | chr19:g.10492195T>A | c.707A>T | p.D236V | RefSeq | GRCh38/hg38 |
XM_005260173.1 | chr19:g.10492195T>A | c.707A>T | p.D236V | RefSeq | GRCh38/hg38 |
NM_012289.4 | chr19:g.10492195T>A | c.707A>T | p.D236V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|