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Gene PBRM1
Variant R761G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PBRM1 R761G does not lie within any known functional domains of the Pbrm1 protein (UniProt.org). R761G has not been characterized in the scientific literature and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 R761G

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Transcript NM_018313.5
gDNA chr3:g.52609599T>C
cDNA c.2281A>G
Protein p.R761G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001350075.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405605.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405590.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_181042.4 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001394875.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001366076.2 chr3:g.52609602G>C c.2281C>G p.R761G RefSeq GRCh38/hg38
NM_001405592.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_018313.5 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_181042.5 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405579.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405610.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405578.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
XM_017006748.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001400504.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405558.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405581.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405585.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001394868.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001400501.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405565.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405630.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405611.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405557.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405575.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405623.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405576.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405559.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405593.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405639.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001394873.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405556.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001400473.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405583.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001400470.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405628.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405609.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001394867.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001394872.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001400479.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
XM_017006758.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
XM_017006749.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405588.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001400474.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405634.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405640.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405629.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001400481.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001400496.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405577.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405584.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405563.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001394871.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405612.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405589.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001394869.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405632.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405641.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_018313.4 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405603.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001400484.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405594.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001394876.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405635.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405561.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001400500.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001394877.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001400490.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001394874.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405627.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405631.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405643.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001400475.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
XM_047448462.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405626.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
XM_017006750.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405570.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405555.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405624.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001350075.2 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405567.1 chr3:g.52609599T>C c.2281A>G p.R761G RefSeq GRCh38/hg38
NM_001405633.1 chr3:g.52609599T>C c.2281A>G p.R761G 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 mutant clear cell renal cell carcinoma conflicting Everolimus Phase II Actionable In a Phase II trial (RECORD-3), PBRM1 mutations were associated with longer first-line progression free survival (12.8 vs 5.5 months) in first-line Afinitor (everolimus)-treated clear cell renal cell carcinoma patients compared to first-line Sutent (sunitinib)-treated patients (PMID: 27751729). 27751729
PBRM1 mutant clear cell renal cell carcinoma conflicting Everolimus Clinical Study - Cohort Actionable In a clinical study, PBRM1 truncating mutations were not associated with progression-free survival or overall survival in clear cell renal cell carcinoma patients treated with Afinitor (everolimus) (n=193) (PMID: 31486842). 31486842
PBRM1 mutant clear cell renal cell carcinoma predicted - sensitive Nivolumab Clinical Study - Cohort Actionable In a clinical study, PBRM1 truncating mutations were associated with response to Opdivo (nivolumab) with 39% (15/38) of responding patients harboring PBRM1 mutations vs 22% (16/74) of non-responders, as well as clinical benefit (p=0.0497), increased progression-free survival (HR=0.67), and overall survival (HR=0.65) in post-hoc analysis of archival samples from a Phase III clinical trial of clear cell renal cell carcinoma patients (PMID: 31486842). 31486842
PBRM1 mutant lung non-small cell carcinoma predicted - resistant unspecified PD-1 antibody Clinical Study - Cohort Actionable In a clinical study, treatment with either an anti-PD-1 or anti-PD-L1 therapy resulted in a significantly shorter overall survival (p=0.0057) and progression-free survival (p=0.03) in patients with non-small cell lung cancer harboring a PBRM1 mutation compared to patients with wild-type PBRM1 (PMID: 36456601). 36456601
PBRM1 mutant lung non-small cell carcinoma predicted - resistant unspecified PD-L1 antibody Clinical Study - Cohort Actionable In a clinical study, treatment with either an anti-PD-1 or anti-PD-L1 therapy resulted in a significantly shorter overall survival (p=0.0057) and progression-free survival (p=0.03) in patients with non-small cell lung cancer harboring a PBRM1 mutation compared to patients with wild-type PBRM1 (PMID: 36456601). 36456601