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Gene PBRM1
Variant F1354C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PBRM1 F1354C does not lie within any known functional domains of the Pbrm1 protein (UniProt.org). F1354C has been identified in sequencing studies (PMID: 32236518), but has not been biochemically characterized and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 F1354C

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Transcript NM_018313.5
gDNA chr3:g.52561838A>C
cDNA c.4061T>G
Protein p.F1354C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_018313.4 chr3:g.52561838A>C c.4061T>G p.F1354C RefSeq GRCh38/hg38
NM_018313 chr3:g.52561838A>C c.4061T>G p.F1354C RefSeq GRCh38/hg38
NM_018313.5 chr3:g.52561838A>C c.4061T>G p.F1354C 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References