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PBRM1 Q1298* - Gene Variant Detail

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Gene PBRM1
Variant Q1298*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions PBRM1 Q1298* results in a premature truncation of the Pbrm1 protein at amino acid 1298 of 1689 (UniProt.org). Q1298* confers a loss of function to the Pbrm1 protein as demonstrated by loss of PBAF complex formation and the inability to inhibit cell proliferation in culture (PMID: 28082722).
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 inact mut PBRM1 Q1298*

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Transcript NM_181042.5
gDNA chr3:g.52563477G>A
cDNA c.3892C>T
Protein p.Q1298*
Source Database RefSeq
Genome Build 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.