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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 |
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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PBRM1 F1354C | unknown |