BRIP1 L340F
Gene Variant Detail

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Gene BRIP1
Variant L340F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRIP1 L340F lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L340F retains the ability to suppress replisome-associated G-quadruplex (G4) structures and to rescue mitomycin C-induced cell death of Brip1 knockout cells in culture, but results in reduced iron incorporation in an in vitro assay and decreased DNA helicase activity in culture (PMID: 32542039), and therefore, its effect on Brip1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 L340F

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Transcript NM_032043.3
gDNA chr17:g.61801375G>A
cDNA c.1018C>T
Protein p.L340F
Source Database RefSeq
Genome Build 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.