Gene Variant Detail

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Gene PBRM1
Variant R710*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions PBRM1 R710* results in a premature truncation of the Pbrm1 protein at amino acid 710 of 1689 (UniProt.org). R710* has not been characterized, however, due to the effects of other truncation mutations downstream of R710 (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 R710*

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Transcript NM_018313.5
gDNA chr3:g.52609752G>A
cDNA c.2128C>T
Protein p.R710*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001405558.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001400481.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001400473.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405585.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405555.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405594.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405579.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006748.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006734.2 chr3:g.52609846_52609848delCGCinsTGA c.2128_2130delCGCinsTGA p.R710* RefSeq GRCh38/hg38
NM_001394874.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405559.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006734.3 chr3:g.52609846_52609848delCGCinsTGA c.2128_2130delCGCinsTGA p.R710* RefSeq GRCh38/hg38
NM_001405563.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405628.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006749.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405605.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405588.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405632.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001394871.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001400496.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001400501.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006738.2 chr3:g.52609823_52609824delAGinsTA c.2128_2129delAGinsTA p.R710* RefSeq GRCh38/hg38
XM_017006749 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405584.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001394869.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405641.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006748 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405561.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006739.1 chr3:g.52609823_52609824delAGinsTA c.2128_2129delAGinsTA p.R710* RefSeq GRCh38/hg38
NM_001405611.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405635.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405639.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001394876.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001400484.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405552.1 chr3:g.52609853_52609854delAGinsTA c.2128_2129delAGinsTA p.R710* RefSeq GRCh38/hg38
XM_047448449.1 chr3:g.52609823_52609824delAGinsTA c.2128_2129delAGinsTA p.R710* RefSeq GRCh38/hg38
NM_001350075.2 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405623.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001400475.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405609.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001400504.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405612.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001400470.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001394867.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_181042.5 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405634.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006757 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_018313.5 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405629.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006758.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405575.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006737.1 chr3:g.52609823_52609824delAGinsTA c.2128_2129delAGinsTA p.R710* RefSeq GRCh38/hg38
NM_001405577.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405631.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001400474.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405630.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_018313.4 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405610.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405556.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001394873.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405557.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405633.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405581.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_018313 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006765 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006740.1 chr3:g.52609823_52609824delAGinsTA c.2128_2129delAGinsTA p.R710* RefSeq GRCh38/hg38
NM_001405592.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001400479.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006758 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405567.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405570.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001394872.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001394875.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405593.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001350075.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006750.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_047448462.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001400500.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_181042.4 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405590.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405583.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405626.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405578.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405589.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405624.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006733.2 chr3:g.52609846_52609848delCGCinsTGA c.2128_2130delCGCinsTGA p.R710* RefSeq GRCh38/hg38
NM_001405627.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405640.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405565.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405576.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001394877.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
XM_017006750 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405643.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001394868.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001400490.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38
NM_001405603.1 chr3:g.52609752G>A c.2128C>T p.R710* RefSeq GRCh38/hg38

Filtering

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  • 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries