BRIP1 E357*
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene BRIP1
Variant E357*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRIP1 E357* results in a premature truncation of the Brip1 protein at amino acid 357 of 1249 (UniProt.org). E357* confers resistance to interstrand crosslinking agents in BRIP1-null cells in culture (PMID: 33619228), however, due to the effects of other truncation mutations downstream of E357 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 E357*

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.

Transcript NM_032043.3
gDNA chr17:g.61801324C>A
cDNA c.1069G>T
Protein p.E357*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011525334.3 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436904.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436902.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_011525336.3 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436894.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436895.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436903.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_011525341.4 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436893.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_011525333.4 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_011525332.4 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_011525340.4 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61801324C>A c.1069G>T p.E357* RefSeq GRCh38/hg38
XM_011525339.4 chr17:g.61801324C>A c.1069G>T p.E357* 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 E357* Advanced Solid Tumor resistant Cisplatin Preclinical - Cell culture Actionable In a preclinical study, Platinol (cisplatin) treatment did not inhibit viability of a cell line expressing BRIP1 E357* in culture (PMID: 33619228). 33619228