Gene Variant Detail

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@jax.org

Gene BRIP1
Variant L340F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRIP1 L340F lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L340F retains the ability to suppress replisome-associated G-quadruplex (G4) structures and to rescue mitomycin C-induced cell death of Brip1 knockout cells in culture, but results in reduced iron incorporation in an in vitro assay and decreased DNA helicase activity in culture (PMID: 32542039), and therefore, its effect on Brip1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 L340F

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.61801375G>A
cDNA c.1018C>T
Protein p.L340F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011525335.4 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436902.1 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525336.3 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525336.2 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525341.3 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436904.1 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_017025203.1 chr17:g.61685867_61685869delCTAinsTTT c.1018_1020delCTAinsTTT p.L340F RefSeq GRCh38/hg38
XM_011525337.2 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_017025202.1 chr17:g.61685867_61685869delCTAinsTTT c.1018_1020delCTAinsTTT p.L340F RefSeq GRCh38/hg38
XM_011525332.4 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525333.4 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
NM_032043 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525333 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525336 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525334 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_017025203 chr17:g.61685867_61685869delTAGinsAAA c.1018_1020delCTAinsTTT p.L340F RefSeq GRCh38/hg38
XM_011525332.3 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525335 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525334.3 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436894.1 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_017025202 chr17:g.61685867_61685869delTAGinsAAA c.1018_1020delCTAinsTTT p.L340F RefSeq GRCh38/hg38
XM_011525340 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436895.1 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525333.3 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525340.4 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525339 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525337 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525332 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525341.4 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525340.3 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525341 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525334.2 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525339.3 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436893.1 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_011525339.4 chr17:g.61801375G>A c.1018C>T p.L340F RefSeq GRCh38/hg38
XM_047436903.1 chr17:g.61801375G>A c.1018C>T p.L340F 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 L340F Advanced Solid Tumor no benefit CX-5461 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing BRIP1 L340F were not sensitive to CX-5461 induced growth inhibition in culture (PMID: 32542039). 32542039