Gene Variant Detail

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Gene BRIP1
Variant S624L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRIP1 S624L does not lie within any known functional domains of the Brip1 protein (UniProt.org). S624L has been identified in sequencing studies (PMID: 27978560, PMID: 22810696, PMID: 22197931), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 S624L

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Transcript NM_032043.3
gDNA chr17:g.61780325G>A
cDNA c.1871C>T
Protein p.S624L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011525334.2 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525333.3 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525339 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525332 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525334.3 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525341.4 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525336.2 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436894.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
NM_032043 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525336 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525341.3 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525339.3 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525332.3 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525336.3 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525341 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436903.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436902.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525334 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525332.4 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525340.4 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525333 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525340.3 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436904.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525333.4 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525339.4 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436895.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525340 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_047436893.1 chr17:g.61780325G>A c.1871C>T p.S624L RefSeq GRCh38/hg38
XM_011525335 chr17:g.61780325G>A c.1871C>T p.S624L 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