BRIP1 E1145A
Gene Variant Detail

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Gene BRIP1
Variant E1145A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRIP1 E1145A does not lie within any known functional domains of the Brip1 protein (UniProt.org). E1145A confers a partial resistance to interstrand crosslinking agents compared to wild-type protein in BRIP1-deficient cells in culture (PMID: 33619228), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 E1145A

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Transcript NM_032043.3
gDNA chr17:g.61683612T>G
cDNA c.3434A>C
Protein p.E1145A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047436891.1 chr17:g.61683612T>G c.3434A>C p.E1145A RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61683612T>G c.3434A>C p.E1145A RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61683612T>G c.3434A>C p.E1145A RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61683612T>G c.3434A>C p.E1145A RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61683612T>G c.3434A>C p.E1145A RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61683612T>G c.3434A>C p.E1145A 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 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline BRIP1 mutations are associated with increased risk of developing ovarian cancer (NCCN.org). detail...