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Gene PBRM1
Variant Q1298*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions PBRM1 Q1298* results in a premature truncation of the Pbrm1 protein at amino acid 1298 of 1689 (UniProt.org). Q1298* confers a loss of function to the Pbrm1 protein as demonstrated by loss of PBAF complex formation and the inability to inhibit cell proliferation in culture (PMID: 28082722).
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 inact mut PBRM1 Q1298*

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Transcript NM_181042.5
gDNA chr3:g.52563477G>A
cDNA c.3892C>T
Protein p.Q1298*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001405627.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405640.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405557.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405593.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_181042.5 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001400474.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001400500.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001350075.2 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
XM_017006758 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405630.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001400496.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
XM_017006765 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405641.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001394872.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001350075.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_181042.4 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405623.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
XM_017006750 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001394869.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405631.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
XM_017006757 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405584.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405581.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001394875.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001394867.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405626.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405587.1 chr3:g.52563333G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405610.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405570.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405556.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405609.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
XM_017006758.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
XM_017006748.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001400501.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001400479.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
XM_017006748 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001394868.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001394878.1 chr3:g.52563441G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001400475.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
XM_017006750.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
XM_017006749.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405555.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405603.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001394871.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
XM_017006749 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405583.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001400470.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405643.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405577.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405628.1 chr3:g.52563477G>A c.3892C>T p.Q1298* RefSeq GRCh38/hg38
NM_001405594.1 chr3:g.52563477G>A c.3892C>T p.Q1298* 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