Gene Variant Detail

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Gene RAD54L
Variant L109Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD54L L109Q does not lie within any known functional domains of the Rad54l protein (UniProt.org). L109Q 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 L109Q

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Transcript NM_001142548.2
gDNA chr1:g.46260018_46260019delTCinsAA
cDNA c.326_327delTCinsAA
Protein p.L109Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003579 chr1:g.46260018_46260019delTCinsAA c.326_327delTCinsAA p.L109Q RefSeq GRCh38/hg38
NM_001142548.1 chr1:g.46260018_46260019delTCinsAA c.326_327delTCinsAA p.L109Q RefSeq GRCh38/hg38
NM_003579.3 chr1:g.46260018_46260019delTCinsAA c.326_327delTCinsAA p.L109Q RefSeq GRCh38/hg38
NM_001142548.2 chr1:g.46260018_46260019delTCinsAA c.326_327delTCinsAA p.L109Q RefSeq GRCh38/hg38
NM_003579.4 chr1:g.46260018_46260019delTCinsAA c.326_327delTCinsAA p.L109Q RefSeq GRCh38/hg38
NM_001142548 chr1:g.46260018_46260019delTCinsAA c.326_327delTCinsAA p.L109Q 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
RAD54L L109Q unknown