Gene Variant Detail

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Gene BRIP1
Variant E636K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRIP1 E636K does not lie within any known functional domains of the Brip1 protein (UniProt.org). E636K demonstrates reduced protein stability and partially rescues mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), 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 E636K

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Transcript NM_032043.3
gDNA chr17:g.61780290C>T
cDNA c.1906G>A
Protein p.E636K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047436892.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_047436902.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525341.3 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525334.3 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525336 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525340 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525339.4 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
NM_032043 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_047436894.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525340.3 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525332.3 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525332.4 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525334.2 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_047436895.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_047436904.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525334 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525339.3 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_047436893.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525333.4 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_047436903.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525339 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525341.4 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525333.3 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525336.3 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525333 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525336.2 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525335 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525341 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525340.4 chr17:g.61780290C>T c.1906G>A p.E636K RefSeq GRCh38/hg38
XM_011525332 chr17:g.61780290C>T c.1906G>A p.E636K 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