Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene PBRM1
Variant R941fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PBRM1 R941fs (corresponds to R926fs in the canonical isoform) results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 941, likely resulting in premature truncation of the functional protein (UniProt.org). R941fs has not been characterized, however, due to the effects of other truncation mutations downstream of R941 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 inact mut PBRM1 R941fs

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.

No Variant Reference Transcript is Available.
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017006745 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265280.3 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
NM_001400471.1 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265282.4 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265279 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_017006746.2 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
NM_001405607.1 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265282 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265280 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
NM_001405571.1 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
NM_001405601.1 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265283 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_017006746 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_017006745.2 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265279.5 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries