BRIP1 C283R
Gene Variant Detail

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Gene BRIP1
Variant C283R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRIP1 C283R lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). C283R confers a loss of function to the Brip1 protein as demonstrated by reduced iron incorporation in an in vitro assay, defective unwinding of D-loop DNA substrates and G-quadruplex (G4) DNA secondary structures, failure to suppress accumulation of replisome-associated G4 structures and rescue mitomycin C-induced cell death of Brip1 knockout cells in culture (PMID: 32542039).
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 C283R

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Transcript NM_032043.3
gDNA chr17:g.61808538A>G
cDNA c.847T>C
Protein p.C283R
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.