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Gene | RAD54L |
Variant | K189R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD54L K189R lies within the helicase ATP-binding domain of the Rad54l protein (UniProt.org). K189R confers a loss of function to the Rad54l protein as demonstrated by loss of ATPase activity (PMID: 9774452) and impaired D-loop formation (PMID: 17417655) in in vitro assays, increased sensitivity to DNA damage induction (PMID: 9774452, PMID: 21357745), and decreased displacement of Rad51 from DNA in cultured cells (PMID: 21357745). |
Associated Drug Resistance | |
Category Variants Paths |
RAD54L mutant RAD54L inact mut RAD54L K189R |
Transcript | NM_001142548.2 |
gDNA | chr1:g.46260815A>G |
cDNA | c.566A>G |
Protein | p.K189R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001142548.1 | chr1:g.46260815A>G | c.566A>G | p.K189R | RefSeq | GRCh38/hg38 |
NM_003579.3 | chr1:g.46260815A>G | c.566A>G | p.K189R | RefSeq | GRCh38/hg38 |
NM_001142548 | chr1:g.46260815A>G | c.566A>G | p.K189R | RefSeq | GRCh38/hg38 |
NM_001142548.2 | chr1:g.46260815A>G | c.566A>G | p.K189R | RefSeq | GRCh38/hg38 |
NM_003579.4 | chr1:g.46260815A>G | c.566A>G | p.K189R | RefSeq | GRCh38/hg38 |
NM_003579 | chr1:g.46260815A>G | c.566A>G | p.K189R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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