Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene RAD54L
Variant F82S
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD54L F82S does not lie within any known functional domains of the Rad54l protein (UniProt.org). F82S results in loss of Rad51 binding ability when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), and therefore, is predicted to lead to a loss of Rad54l protein function.
Associated Drug Resistance
Category Variants Paths

RAD54L mutant RAD54L inact mut RAD54L F82S

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.

Transcript NM_001142548.2
gDNA chr1:g.46258720T>C
cDNA c.245T>C
Protein p.F82S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001142548.1 chr1:g.46258720T>C c.245T>C p.F82S RefSeq GRCh38/hg38
NM_001142548 chr1:g.46258720T>C c.245T>C p.F82S RefSeq GRCh38/hg38
NM_003579.4 chr1:g.46258720T>C c.245T>C p.F82S RefSeq GRCh38/hg38
NM_001142548.2 chr1:g.46258720T>C c.245T>C p.F82S RefSeq GRCh38/hg38
NM_003579.3 chr1:g.46258720T>C c.245T>C p.F82S RefSeq GRCh38/hg38
NM_003579 chr1:g.46258720T>C c.245T>C p.F82S 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References