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Gene | FGFR1 |
Variant | K517R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 K517R lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K517R results in reduced Fgfr1 SUMOylation in in vitro assays (PMID: 35733256), but has not been fully biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 K517R |
Transcript | NM_023110.3 |
gDNA | chr8:g.38417872T>C |
cDNA | c.1550A>G |
Protein | p.K517R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017013221.2 | chr8:g.38417872T>C | c.1550A>G | p.K517R | RefSeq | GRCh38/hg38 |
XM_017013221 | chr8:g.38417872T>C | c.1550A>G | p.K517R | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38417872T>C | c.1550A>G | p.K517R | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38417872T>C | c.1550A>G | p.K517R | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38417872T>C | c.1550A>G | p.K517R | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38417872T>C | c.1550A>G | p.K517R | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38417872T>C | c.1550A>G | p.K517R | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38417872T>C | c.1550A>G | p.K517R | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38417872T>C | c.1550A>G | p.K517R | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38417872T>C | c.1550A>G | p.K517R | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38417872T>C | c.1550A>G | p.K517R | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38417872T>C | c.1550A>G | p.K517R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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