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Gene RAD54L
Variant L381Cfs*8
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD54L L381Cfs*8 indicates a shift in the reading frame starting at amino acid 381 and terminating eight residues downstream causing a premature truncation of the 747 amino acid Rad54l protein (UniProt.org). Due to loss of the C-terminal helicase domain (UniProt.org), L381Cfs*8 is predicted to lead to a loss of Rad54l protein function.
Associated Drug Resistance
Category Variants Paths

RAD54L mutant RAD54L inact mut RAD54L L381Cfs*8

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Transcript NM_001142548.2
gDNA chr1:g.46270757delC
cDNA c.1141delC
Protein p.L381Cfs*8
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003579.3 chr1:g.46270757delC c.1141delC p.L381Cfs*8 RefSeq GRCh38/hg38
NM_001142548.2 chr1:g.46270757delC c.1141delC p.L381Cfs*8 RefSeq GRCh38/hg38
NM_001142548.1 chr1:g.46270757delC c.1141delC p.L381Cfs*8 RefSeq GRCh38/hg38
NM_003579.4 chr1:g.46270757delC c.1141delC p.L381Cfs*8 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.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References