BRIP1 C283S
Gene Variant Detail

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Gene BRIP1
Variant C283S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRIP1 C283S lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). C283S 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 C283S

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Transcript NM_032043.3
gDNA chr17:g.61808538A>T
cDNA c.847T>A
Protein p.C283S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011525340.4 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525336 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525334.3 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525340.3 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525334 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436893.1 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525333 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525340 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436894.1 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525337 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525341 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525336.2 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525333.3 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525339.3 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525333.4 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436902.1 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
NM_032043 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525335 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525334.2 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525332 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525336.3 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525332.4 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525341.3 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525339.4 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436904.1 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525332.3 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525341.4 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436903.1 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525339 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525337.2 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61808538A>T c.847T>A p.C283S RefSeq GRCh38/hg38
XM_047436895.1 chr17:g.61808538A>T c.847T>A p.C283S 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
BRIP1 C283S Advanced Solid Tumor sensitive CX-5461 Preclinical - Cell culture Actionable In a preclinical study, CX-5461 inhibited survival of transformed cells expressing BRIP1 C283S in culture (PMID: 32542039). 32542039