BRIP1 C832Y
Gene Variant Detail

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Gene BRIP1
Variant C832Y
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRIP1 C832Y lies within helicase domain VI of the Brip1 protein (PMID: 20639400). C832Y demonstrates reduced protein stability and fails to rescue mitomycin-induced DNA damage in cell culture (PMID: 31822495), and therefore, is predicted to lead to a loss of Brip1 protein function.
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 C832Y

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Transcript NM_032043.3
gDNA chr17:g.61693510C>T
cDNA c.2495G>A
Protein p.C832Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_032043.3 chr17:g.61693510C>T c.2495G>A p.C832Y RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61693510C>T c.2495G>A p.C832Y RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61693510C>T c.2495G>A p.C832Y RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61693510C>T c.2495G>A p.C832Y RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61693510C>T c.2495G>A p.C832Y RefSeq GRCh38/hg38
XM_011525335 chr17:g.61693510C>T c.2495G>A p.C832Y RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61693510C>T c.2495G>A p.C832Y RefSeq GRCh38/hg38
NM_032043 chr17:g.61693510C>T c.2495G>A p.C832Y 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References