Gene Variant Detail

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Gene PBRM1
Variant M704R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PBRM1 M704R lies within bromo domain 5 of the Pbrm1 protein (UniProt.org). M704R 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 M704R

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Transcript NM_018313.5
gDNA chr3:g.52609769A>C
cDNA c.2111T>G
Protein p.M704R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001405585.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405575.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405640.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001394873.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
XM_017006749.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405578.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001400470.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_018313.4 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
XM_017006758 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405609.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405565.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405628.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001394874.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405576.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_018313 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001400490.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405589.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405634.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405563.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405588.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405583.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001400479.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405643.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405635.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
XM_017006750 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001394875.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405558.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001394867.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405603.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001400501.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405629.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001394877.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405555.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405605.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
XM_017006749 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405561.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405610.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
XM_017006765 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405577.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405557.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_018313.5 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001400481.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001350075.2 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405594.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405612.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001400474.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001394871.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
XM_017006758.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
XM_047448462.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001400473.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001400475.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001400500.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405592.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001400484.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405593.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001394869.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
XM_017006750.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405633.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405627.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405630.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_181042.4 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405581.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405570.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001394872.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405559.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001400504.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405631.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001350075.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_181042.5 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405567.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
XM_017006757 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001394876.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405639.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405626.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405590.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001400496.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405632.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
XM_017006748.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405641.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405556.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405611.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
XM_017006748 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405584.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405624.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001394868.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405623.1 chr3:g.52609769A>C c.2111T>G p.M704R RefSeq GRCh38/hg38
NM_001405579.1 chr3:g.52609769A>C c.2111T>G p.M704R 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