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Gene | FGFR2 |
Variant | I547V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 I547V lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). I547V results in elevated kinase activity compared to wild-type Fgfr2 protein in substrate phosphorylation assays (PMID: 28166054, PMID: 31959966) in cultured cells. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 I547V |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498528T>C |
cDNA | c.1639A>G |
Protein | p.I547V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121498528T>C | c.1639A>G | p.I547V | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121498528T>C | c.1639A>G | p.I547V | RefSeq | GRCh38/hg38 |
XM_006717712 | chr10:g.121488053T>C | c.1639A>G | p.I547V | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121498528T>C | c.1639A>G | p.I547V | RefSeq | GRCh38/hg38 |
XM_024447891.2 | chr10:g.121488053T>C | c.1639A>G | p.I547V | RefSeq | GRCh38/hg38 |
XM_024447891.1 | chr10:g.121488053T>C | c.1639A>G | p.I547V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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