Gene Variant Detail

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Gene RAD54L
Variant H110A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD54L H110A does not lie within any known functional domains of the Rad54l protein (UniProt.org). H110A retains the ability to bind Rad51 when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), but has not been fully biochemically characterized and therefore, its effect on Rad54l protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RAD54L mutant RAD54L H110A

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Transcript NM_001142548.2
gDNA chr1:g.46260020_46260021delCAinsGC
cDNA c.328_329delCAinsGC
Protein p.H110A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001142548.2 chr1:g.46260020_46260021delCAinsGC c.328_329delCAinsGC p.H110A RefSeq GRCh38/hg38
NM_003579.4 chr1:g.46260020_46260021delCAinsGC c.328_329delCAinsGC p.H110A RefSeq GRCh38/hg38
NM_003579.3 chr1:g.46260020_46260021delCAinsGC c.328_329delCAinsGC p.H110A RefSeq GRCh38/hg38
NM_001142548 chr1:g.46260020_46260021delCAinsGC c.328_329delCAinsGC p.H110A RefSeq GRCh38/hg38
NM_003579 chr1:g.46260020_46260021delCAinsGC c.328_329delCAinsGC p.H110A RefSeq GRCh38/hg38
NM_001142548.1 chr1:g.46260020_46260021delCAinsGC c.328_329delCAinsGC p.H110A 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")

Sorting

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