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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, Dec 2022).
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 S681R

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Transcript NM_018313.4
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_017006725 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_017006761 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
XM_011533902.3 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
XM_017006762 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_001350077.1 chr3:g.52609937_52609938delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_011533903.3 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
XM_017006748 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
XM_017006758.1 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
XM_017006743 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_017006752 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_017006754.1 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_017006728 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_017006728.1 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
XM_011533903 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006750 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006729 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_011533900.3 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006726 chr3:g.52615368_52615369delGAinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001350075.1 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
XM_017006732 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006748.1 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
NM_018313 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
XM_017006757 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006765 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006725.1 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_017006749 chr3:g.52609837A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006743.2 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
XM_017006727.1 chr3:g.52615368_52615369delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_001350076.1 chr3:g.52609945A>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_024453618.1 chr3:g.52609937_52609938delTCinsCG c.2041_2042delTCinsCG p.S681R RefSeq GRCh38/hg38
NM_018313.4 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
NM_001350074.1 chr3:g.52609945A>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_017006732.1 chr3:g.52609945A>C c.2043T>G p.S681R RefSeq GRCh38/hg38
XM_017006758 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_011533902 chr3:g.52609945A>C c.2043T>G p.S681R 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
PBRM1 S681R clear cell renal cell carcinoma predicted - sensitive Nivolumab Case Reports/Case Series Actionable In a clinical study, Opdivo (nivolumab) treatment resulted in partial response in a patient with renal clear cell carcinoma harboring PBRM1 S681R (PMID: 29301960). 29301960