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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

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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_011513420 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_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_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
XM_006713873 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
XM_006713873.1 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_001354809.2 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_006713872 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
NM_001354809.1 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
NM_000142.5 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_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

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  • 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