Gene Variant Detail

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Gene PBRM1
Variant S681R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PBRM1 S681R lies within Bromo domain 5 of the Pbrm1 protein (UniProt.org). S681R has been identified in the scientific literature (PMID: 29301960), but has not been biochemically characterized and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 S681R

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Transcript NM_018313.5
gDNA chr3:g.52609837A>C
cDNA c.2043T>G
Protein p.S681R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017006765 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_018313.5 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405634.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001350078.1 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405623.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006760 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_011533900.3 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405567.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405583.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001350077.2 chr3:g.52609937_52609938delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001394867.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001350077.1 chr3:g.52609937_52609938delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001394874.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405588.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_024453619.1 chr3:g.52609937_52609938delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_017006757 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001400470.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001400490.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006728 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001405605.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405635.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405627.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001350074.2 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_181042.4 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001350076.1 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001394868.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006754.1 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405581.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001394869.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_011533902.3 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006732.1 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405610.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006728.1 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001405612.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001394873.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405626.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006743 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001400504.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006726.1 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001405575.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405555.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006728.2 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_017006758.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405585.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001394872.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006750 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001400496.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006752 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001366070.2 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006732 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001400479.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405643.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405573.1 chr3:g.52609652_52609653delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001405563.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405570.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405624.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_018313 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405557.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001350076.2 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405590.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006758 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001400481.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405633.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405578.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006726.2 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_047448446.1 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405609.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001350074.1 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006754 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405559.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006729.2 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_017006752.1 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001405576.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001400500.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006753.2 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001405593.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405561.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006750.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_011533903.4 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001400475.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001400501.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_018313.4 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_011533900.4 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006727 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001405594.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405603.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_047448442.1 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_011533903 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006743.2 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001366075.2 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006753 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001405631.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405592.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_047448443.1 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001405628.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405589.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001394871.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006726 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001394875.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006727.1 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_017006725.1 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001405558.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_011533900 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_047448462.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006761 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006729 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001405554.1 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405629.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405632.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_047448448.1 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405640.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_047448456.1 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405639.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006725 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_017006749 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001400474.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_181042.5 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006725.2 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001405641.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405556.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006749.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001400473.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001350075.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_047448450.1 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001394876.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_011533903.3 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405630.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405584.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405577.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006748 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_047448451.1 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001400484.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006748.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405565.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006762 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006763 chr3:g.52609937_52609938delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_024453619.2 chr3:g.52609937_52609938delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001350078.2 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001350075.2 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001394877.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405611.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_047448447.1 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_011533902 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
NM_001405579.1 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_024453618.1 chr3:g.52609937_52609938delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_017006727.2 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_011533902.4 chr3:g.52609945A>C c.2043T>G p.S681R 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

  • 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