BRIP1 Q815*
Gene Variant Detail

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Gene BRIP1
Variant Q815*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRIP1 Q815* results in a premature truncation of the Brip1 protein at amino acid 815 of 1249 (UniProt.org). Q815* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), 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 Q815*

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Transcript NM_032043.3
gDNA chr17:g.61716000G>A
cDNA c.2443C>T
Protein p.Q815*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011525335.3 chr17:g.61716000G>A c.2443C>T p.Q815* RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61716000G>A c.2443C>T p.Q815* RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61716000G>A c.2443C>T p.Q815* RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61716000G>A c.2443C>T p.Q815* RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61716000G>A c.2443C>T p.Q815* RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61716000G>A c.2443C>T p.Q815* RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61716000G>A c.2443C>T p.Q815* RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61716000G>A c.2443C>T p.Q815* 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRIP1 Q815* Advanced Solid Tumor sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, Platinol (cisplatin) treatment inhibited viability of a cell line expressing BRIP1 Q815* in culture (PMID: 33619228). 33619228