Gene Variant Detail

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Gene RAD54L
Variant K189A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD54L K189A lies within the helicase ATP-binding domain of the Rad54l protein (UniProt.org). K189A confers a loss of function to the Rad54l protein as demonstrated by impaired D-loop formation in an vitro assay (PMID: 17417655), increased sensitivity to DNA damage induction, and decreased displacement of Rad51 from DNA in cultured cells (PMID: 21357745).
Associated Drug Resistance
Category Variants Paths

RAD54L mutant RAD54L inact mut RAD54L K189A

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Transcript NM_001142548.2
gDNA chr1:g.46260814_46260815delAAinsGC
cDNA c.565_566delAAinsGC
Protein p.K189A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003579.4 chr1:g.46260814_46260815delAAinsGC c.565_566delAAinsGC p.K189A RefSeq GRCh38/hg38
NM_001142548 chr1:g.46260814_46260815delAAinsGC c.565_566delAAinsGC p.K189A RefSeq GRCh38/hg38
NM_001142548.2 chr1:g.46260814_46260815delAAinsGC c.565_566delAAinsGC p.K189A RefSeq GRCh38/hg38
NM_001142548.1 chr1:g.46260814_46260815delAAinsGC c.565_566delAAinsGC p.K189A RefSeq GRCh38/hg38
NM_003579.3 chr1:g.46260814_46260815delAAinsGC c.565_566delAAinsGC p.K189A RefSeq GRCh38/hg38
NM_003579 chr1:g.46260814_46260815delAAinsGC c.565_566delAAinsGC p.K189A RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References