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Gene | KEAP1 |
Variant | E41* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | KEAP1 E41* results in a premature truncation of the Keap1 protein at amino acid 41 of 624 (UniProt.org). E41* has not been characterized, however, due to the effects of other truncation mutations downstream of E41 (PMID: 14764898, PMID: 24322982), is predicted to lead to a loss of Keap1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KEAP1 mutant KEAP1 inact mut KEAP1 E41* |
Transcript | NM_203500.2 |
gDNA | chr19:g.10499913C>A |
cDNA | c.121G>T |
Protein | p.E41* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005260174.1 | chr19:g.10499913C>A | c.121G>T | p.E41* | RefSeq | GRCh38/hg38 |
NM_203500.2 | chr19:g.10499913C>A | c.121G>T | p.E41* | RefSeq | GRCh38/hg38 |
NM_012289 | chr19:g.10499913C>A | c.121G>T | p.E41* | RefSeq | GRCh38/hg38 |
NM_012289.3 | chr19:g.10499913C>A | c.121G>T | p.E41* | RefSeq | GRCh38/hg38 |
NM_203500 | chr19:g.10499913C>A | c.121G>T | p.E41* | RefSeq | GRCh38/hg38 |
NM_203500.1 | chr19:g.10499913C>A | c.121G>T | p.E41* | RefSeq | GRCh38/hg38 |
NM_012289.4 | chr19:g.10499913C>A | c.121G>T | p.E41* | RefSeq | GRCh38/hg38 |
XM_005260174 | chr19:g.10499913C>A | c.121G>T | p.E41* | RefSeq | GRCh38/hg38 |
XM_005260173.1 | chr19:g.10499913C>A | c.121G>T | p.E41* | RefSeq | GRCh38/hg38 |
XM_011528452 | chr19:g.10499913C>A | c.121G>T | p.E41* | RefSeq | GRCh38/hg38 |
XM_011528452.1 | chr19:g.10499913C>A | c.121G>T | p.E41* | RefSeq | GRCh38/hg38 |
XM_005260173 | chr19:g.10499913C>A | c.121G>T | p.E41* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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