Gene Variant Detail

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Gene PBRM1
Variant E291*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions PBRM1 E291* results in a premature truncation of the Pbrm1 protein at amino acid 291 of 1689 (UniProt.org). E291* has not been characterized, however, due to the effects of other truncation mutations downstream of E291 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 inact mut PBRM1 E291*

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Transcript NM_018313.5
gDNA chr3:g.52644732C>A
cDNA c.871G>T
Protein p.E291*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017006746 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405570.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405559.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405588.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400471.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400481.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_018313 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400487.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405575.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_181042.4 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400470.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006750.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405630.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006730 chr3:g.52648367C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405606.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400501.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_181042.5 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006730.1 chr3:g.52648367C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006745.2 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405593.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405628.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405567.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405633.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001394872.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_018313.5 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006758 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405563.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006731.2 chr3:g.52648367C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405626.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405585.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_005265280 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001394877.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001394881.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405557.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006748 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400504.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405579.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405629.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405558.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405572.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001394869.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405583.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006757 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405613.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_005265279.5 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405584.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006746.2 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_005265279 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400474.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400473.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_005265282.4 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_005265280.3 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006765 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405631.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405555.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_047448462.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400484.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001350075.2 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400500.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405561.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400496.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405601.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400490.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006731.1 chr3:g.52648367C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_018313.4 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405582.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405623.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001350075.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405594.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405639.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405643.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405612.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405638.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405577.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001394876.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006750 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405616.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405627.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405571.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001394867.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405603.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405610.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405641.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006730.2 chr3:g.52648367C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006758.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405605.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001394868.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006748.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405607.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001394875.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006749.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405624.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405614.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006731 chr3:g.52648367C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006745 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405565.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_005265283 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_047448460.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405589.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400472.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001394874.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405596.1 chr3:g.52603521C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001394873.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400475.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405632.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405640.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001394879.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405566.1 chr3:g.52603521C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405615.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405604.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405590.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405581.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405592.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405599.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405578.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_017006749 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405602.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
XM_005265282 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405576.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405611.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405609.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405556.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001394871.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001400479.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405635.1 chr3:g.52644732C>A c.871G>T p.E291* RefSeq GRCh38/hg38
NM_001405634.1 chr3:g.52644732C>A c.871G>T p.E291* 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries