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Gene | FGFR3 |
Variant | F384L |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | FGFR3 F384L lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). F384L results in proliferation similar to wild-type Fgfr3 in a competition assay, transformation activity similar to wild-type Fgfr3 in cultured cells (PMID: 34272467), does not result in activation of Fgfr3, and is not transforming in cell culture (PMID: 11157491, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 F384L |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804404T>C |
cDNA | c.1150T>C |
Protein | p.F384L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011513422 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
XM_011513420.1 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
NM_001354810.1 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
NM_001354809.1 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
XM_011513420.2 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
NM_001354809.2 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
XM_011513422.2 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
XM_011513420 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
XM_006713872 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
NM_001354810.2 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
XM_011513422.1 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
XM_047449822.1 | chr4:g.1804404T>C | c.1150T>C | p.F384L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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