RAD54L S49E
Gene Variant Detail

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Gene RAD54L
Variant S49E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD54L S49E does not lie within any known functional domains of the Rad54l protein (UniProt.org). S49E confers a loss of function to the Rad54l protein as demonstrated by loss of Rad54l oligomerization and impaired DNA binding and branch migration in cell culture and in vitro assays (PMID: 29295984, PMID: 32337843).
Associated Drug Resistance
Category Variants Paths

RAD54L mutant RAD54L inact mut RAD54L S49E

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Transcript NM_003579.4
gDNA chr1:g.46250054_46250056delTCTinsGAG
cDNA c.145_147delTCTinsGAG
Protein p.S49E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001142548.2 chr1:g.46250054_46250056delTCTinsGAG c.145_147delTCTinsGAG p.S49E RefSeq GRCh38/hg38
NM_003579 chr1:g.46250054_46250056delTCTinsGAG c.145_147delTCTinsGAG p.S49E RefSeq GRCh38/hg38
NM_001142548.1 chr1:g.46250054_46250056delTCTinsGAG c.145_147delTCTinsGAG p.S49E RefSeq GRCh38/hg38
NM_001142548 chr1:g.46250054_46250056delTCTinsGAG c.145_147delTCTinsGAG p.S49E RefSeq GRCh38/hg38
NM_003579.3 chr1:g.46250054_46250056delTCTinsGAG c.145_147delTCTinsGAG p.S49E RefSeq GRCh38/hg38
NM_003579.4 chr1:g.46250054_46250056delTCTinsGAG c.145_147delTCTinsGAG p.S49E RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
RAD54L S49E loss of function Olaparib